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Sample records for infantile hypertrophic pyloric

  1. Factors associated with infantile hypertrophic pyloric stenosis.

    PubMed

    Jedd, M B; Melton, L J; Griffin, M R; Kaufman, B; Hoffman, A D; Broughton, D; O'Brien, P C

    1988-03-01

    We examined perinatal factors in relation to the rise in incidence of infantile hypertrophic pyloric stenosis among children in Olmsted County, Minnesota, during the period from 1950 through 1984. Primogeniture was associated with male infants but not female infants; some factor related to primogeniture, such as breast-feeding, may be etiologically important. Our data did not support a role for maternal disease, use of doxylamine succinate-pyridoxide hydrochloride (Bendectin), or an infectious process. Further study should be directed toward environmental factors associated with primogeniture.

  2. Intravenous atropine treatment in infantile hypertrophic pyloric stenosis

    PubMed Central

    Kawahara, H; Imura, K; Nishikawa, M; Yagi, M; Kubota, A

    2002-01-01

    Aims: To assess the efficacy of a new regimen of intravenous atropine treatment for infantile hypertrophic pyloric stenosis (IHPS) with special reference to regression of pyloric hypertrophy. Methods: Atropine was given intravenously at a dose of 0.01 mg/kg six times a day before feeding in 19 patients with IHPS diagnosed from radiographic and ultrasonographic findings. When vomiting ceased and the infants were able to ingest 150 ml/kg/day formula after stepwise increases in feeding volume, they were given 0.02 mg/kg atropine six times a day orally and the dose was decreased stepwise. Results: Of the 19 infants, 17 (89%) ceased projectile vomiting after treatment with intravenous (median seven days) and subsequent oral (median 44 days) atropine administration. The remaining two infants required surgery. No significant complications were encountered. Ultrasonography showed a significant (p < 0.05) decrease in pyloric muscle thickness, but no significant shortening of the pyloric canal after completion of the atropine treatment. The patients exhibited failure to thrive at presentation, but were thriving at 6 months of age (p < 0.01). Conclusions: This atropine therapy resulted in satisfactory clinical recovery. Pyloric muscle thickness was significantly reduced. PMID:12089130

  3. Infantile Hypertrophic Pyloric Stenosis in Postoperative Esophageal Atresia with Tracheoesophageal Fistula.

    PubMed

    R A A, Hassan; Y U, Choo; R, Noraida; I, Rosida

    2015-01-01

    Development of infantile hypertrophic pyloric stenosis during postoperative period in EA with TEF is rare. Postoperative vomiting or feeding intolerance in EA is more common which is due to esophageal stricture, gastroesophageal reflux and esophageal dysmotility. A typical case of IHPS also presents with non-bilious projectile vomiting at around 3-4 weeks of life. The diagnosis of infantile hypertrophic pyloric stenosis in this subset is usually delayed because of its rarity. We report a case of IHPS in postoperative EA and emphasize on high index of suspicion to avoid any delay in diagnosis with its metabolic consequences.

  4. Genome-wide linkage analysis in families with infantile hypertrophic pyloric stenosis indicates novel susceptibility loci.

    PubMed

    Svenningsson, Anna; Söderhäll, Cilla; Persson, Sofia; Lundberg, Fredrik; Luthman, Holger; Chung, Eddie; Gardiner, Mark; Kockum, Ingrid; Nordenskjöld, Agneta

    2012-02-01

    Infantile hypertrophic pyloric stenosis (IHPS) is a common cause of upper gastrointestinal obstruction during infancy. A multifactorial background of the disease is well established. Multiple susceptibility loci including the neuronal nitric oxide synthase (NOS1) gene have previously been linked to IHPS, but contradictory results of linkage studies in different materials indicate genetic heterogeneity. To identify IHPS susceptibility loci, we conducted a genome-wide linkage analysis in 37 Swedish families. In regions where the Swedish material showed most evidence in favor of linkage, 31 additional British IHPS families were analyzed. Evidence in favor of significant linkage was observed in the Swedish material to two loci on chromosome 2q24 (non-parametric linkage (NPL) =3.77) and 7p21 (NPL=4.55). In addition, evidence of suggestive linkage was found to two loci on chromosome 6p21 (NPL=2.97) and 12q24 (NPL=2.63). Extending the material with British samples did not enhance the level of significance. Regions with linkage harbor interesting candidate genes, such as glucagon-like peptide-2 (GLP-2 encoded by the glucagon gene GCG), NOS1, motilin (MLN) and neuropeptide Y (NPY). The coding exons for GLP-2, and NPY were screened for mutations with negative results. In conclusion, we could confirm suggestive linkage to the region harboring the NOS1 gene and detected additional novel susceptibility loci for IHPS.

  5. [Gastric adenomyoma clinically simulating hypertrophic pyloric stenosis].

    PubMed

    Sánchez García, S; Rubio Solís, D; Anes González, G; González Sánchez, S

    2016-01-01

    Gastric adenomyomas are extremely uncommon benign tumors in children. On histologic examination, these tumors have an epithelial component similar to pancreatic ducts. We present a case of a pyloric adenomyoma that clinically simulated hypertrophic pyloric stenosis in a newborn girl. Imaging tests, fundamentally magnetic resonance imaging, were very important in the characterization and diagnosis of this entity.

  6. Hypertrophic pyloric stenosis in the third world.

    PubMed

    Saula, P W; Hadley, G P

    2011-10-01

    The relative rarity of hypertrophic pyloric stenosis (HPS) in the developing world makes its diagnosis a challenge to many physicians. This study audits the management of HPS at a tertiary hospital in South Africa, with a view to defining its regional pattern. This is a retrospective review of records of all patients (n = 63) managed for HPS over an eight-year period (2002-2010). The mean age at presentation was 6.2 weeks and the male/female ratio was 6:1. The majority of patients presented with non-bilious vomiting. Abdominal ultrasound had a sensitivity of 65% and 81.3% when the criteria of pyloric muscle thickness >4 mm and pyloric channel length >16 mm were used, respectively. The overall complication rate was 14.3% and the mortality rate was 0%. Despite the rarity of HPS in the Third World, the outcome of its management is favourable. However, the sensitivity of abdominal ultrasound for diagnosing HPS is low.

  7. Epidermolysis Bullosa with Hypertrophic Pyloric Stenosis in a Newborn.

    PubMed

    Ben Dhaou, Mahdi; Ammar, Saloua; Louati, Hamdi; Zitouni, Hayet; Jallouli, Mohamed; Mhiri, Riadh

    2015-01-01

    Epidermolysis bullosa (EB) is an inherited blistering disorder characterized by the fragility of the skin and mucous membranes. Extracutaneous manifestations can be associated. We report a unique concomitant occurrence of EB and hypertrophic pyloric stenosis in a newborn.

  8. Epidermolysis Bullosa with Hypertrophic Pyloric Stenosis in a Newborn

    PubMed Central

    Ben Dhaou, Mahdi; Ammar, Saloua; Louati, Hamdi; Zitouni, Hayet; Jallouli, Mohamed; Mhiri, Riadh

    2015-01-01

    Epidermolysis bullosa (EB) is an inherited blistering disorder characterized by the fragility of the skin and mucous membranes. Extracutaneous manifestations can be associated. We report a unique concomitant occurrence of EB and hypertrophic pyloric stenosis in a newborn. PMID:26500857

  9. Penile agenesis and congenital hypertrophic pyloric stenosis: an association or a random coexistence?

    PubMed

    Yagmurlu, Aydin; Vargun, Rahsan; Gollu, Gulnur; Gokcora, I Haluk

    2004-01-01

    A neonate with penile agenesis and congenital hypertrophic pyloric stenosis is presented. The patterns of associated anomalies with penile agenesis, and those of congenital hypertrophic pyloric stenosis are discussed.

  10. Ultrasonic "double track" sign in hypertrophic pyloric stenosis.

    PubMed

    Cohen, H L; Schechter, S; Mestel, A L; Eaton, D H; Haller, J O

    1987-03-01

    Ultrasound has been used in the diagnosis of hypertrophic pyloric stenosis since the first reports of its use with contact B mode scanners. Real-time imaging has allowed measurements of pyloric diameter, length, and muscle wall thickness. Wall thickness measurements taken with the pylorus in longitudinal (elongated) view improve diagnostic accuracy. Fluid aided real-time examination of 10 cases showed the ultrasound equivalent of the "double track" sign. This finding is the result of pyloric fluid compressed into smaller tracks as it is impinged upon circumferentially by the thickened circular muscle. This sign, previously seen in barium studies, although nonspecific, may prove to be a sensitive diagnostic criterion.

  11. Adult hypertrophic pyloric stenosis — a description in 1834?

    PubMed Central

    Stout, G.

    1983-01-01

    John Peacock MD was in practice in Darlington when he published his Practical Hints on the Treatment of Several Diseases in 1834. It is suggested that his cases described therein of `scirrhous pylorus' are adult hypertrophic pyloric stenosis. If authenticated, his work would predate the earliest description of this condition by the French pathologist, Professor Jean Cruveilhier in 1835. PMID:6350566

  12. Idiopathic non-hypertrophic pyloric stenosis in an infant successfully treated via endoscopic approach

    PubMed Central

    Karnsakul, Wikrom; Cannon, Mary L; Gillespie, Stacey; Vaughan, Richard

    2010-01-01

    Non-peptic, non-hypertrophic pyloric stenosis has rarely been reported in pediatric literature. Endoscopic pyloric balloon dilation has been shown to be a safe procedure in treating gastric outlet obstruction in older children and adults. Partial gastric outlet obstruction (GOO) was diagnosed in an infant by history and confirmed by an upper gastrointestinal series (UGI). Abdominal ultrasonography and computed tomography scan excluded idiopathic hypertrophic pyloric stenosis, abdominal tumors, gastrointestinal and hepato-biliary-pancreatic anomalies. Endoscopic findings showed a pinhole-sized pylorus and did not indicate peptic ulcer disease, Helicobacter pylori infection, antral web, or evidence of allergic and inflammatory bowel diseases. Three sessions of a step-wise endoscopic pyloric balloon dilation were conducted under general anesthesia and a fluoroscopy at two week intervals using catheter balloons (Boston Scientific Microvasive®, MA, USA) of increasing diameters. Repeat UGI after the first session revealed normal gastrointestinal transit and no intestinal obstruction. The patient tolerated solid food without any gastrointestinal symptoms since the first session. The endoscope was able to be passed through the pylorus after the last session. Although the etiology of GOO in this infant is unclear (proposed mechanisms are herein discussed), endoscopic pyloric balloon dilation was a safe procedure for treating this young infant with non-peptic, non-hypertrophic pyloric stenosis and should be considered as an initial approach before pyloroplasty in such presentations. PMID:21191516

  13. Role of bottle feeding in the etiology of hypertrophic pyloric stenosis.

    PubMed

    McAteer, Jarod P; Ledbetter, Daniel J; Goldin, Adam B

    2013-12-01

    IMPORTANCE Bottle feeding has been implicated in the etiology of hypertrophic pyloric stenosis (HPS). Further data are needed to define the nature of this relationship and the clinical variables that influence it. OBJECTIVE To determine if bottle feeding after birth is associated with the development of HPS in infants. We hypothesized that bottle feeding is associated with an increased risk of HPS and that this risk is modified by other risk factors. DESIGN, SETTING, AND PARTICIPANTS Population-based case-control study of births from January 1, 2003, to December 31, 2009, using Washington State birth certificates linked to hospital discharge data. Cases included all singleton infants born within the study period and subsequently admitted with both a diagnostic code for HPS and a procedure code for pyloromyotomy (n = 714). Controls were randomly chosen among singleton infants who did not develop HPS and were frequency matched to cases by birth year. EXPOSURE Feeding status (breast vs bottle) was coded on the birth certificate as the type of feeding the infant was receiving at birth discharge. MAIN OUTCOME AND MEASURE Diagnosis of HPS. RESULTS Hypertrophic pyloric stenosis incidence decreased over time, from 14 per 10,000 births in 2003 to 9 per 10,000 in 2009. Simultaneously, breastfeeding prevalence increased from 80% in 2003 to 94% in 2009. Compared with controls, cases were more likely to be bottle feeding after birth (19.5% vs 9.1%). After adjustment, bottle feeding was associated with an increased risk of HPS (odds ratio [OR], 2.31; 95% CI, 1.81-2.95). This association did not differ according to sex or maternal smoking status but was significantly modified by maternal age (<20 years OR, 0.98; 95% CI, 0.51-1.88; ≥35 years OR, 6.07; 95% CI, 2.81-13.10) and parity (nulliparous OR, 1.60; 95% CI, 1.07-2.38; multiparous OR, 3.42; 95% CI, 2.23-5.24). CONCLUSIONS AND RELEVANCE Bottle feeding is associated with an increased risk of HPS, and this effect seems to

  14. Hypertrophic pyloric stenosis in the Maritimes: examining the waves of change over time

    PubMed Central

    Ednie, Alexander C.; Amram, Ofer; Creaser, Jenna Colleen; Schuurman, Nadine; Leclerc, Suzanne; Yanchar, Natalie

    2016-01-01

    Background Changing patterns of referral and management of pediatric surgical conditions, including hypertrophic pyloric stenosis (HPS), have recently been described and often relate to comfort with early nonoperative management, anesthesia and corrective surgery. Travelling distance required for treatment at pediatric centres can also be burdensome for families. We assessed referral patterns for HPS in the maritime provinces of Canada over 10 years to quantify the burden on families travelling for surgical care. Methods We reviewed the charts of all patients with HPS in the Maritimes. Length of hospital stay (LOS) and complication rates were analyzed in regards to resuscitation and management at a pediatric centre and/or peripheral centres. We used postal codes for each patient to track distance travelled for management. Results We assessed 751 cases of HPS. During the study period (Jan. 1, 2001–Dec. 31, 2010), referral to pediatric centres increased from 49% to 71%. Postoperative complications were 2.5-fold higher in peripheral centres. Infants referred to pediatric centres were 78% less likely to have an LOS longer than 3 days. Laparoscopic pyloromyotomy, which was performed only in pediatric centres, was associated with a shorter postoperative LOS. Conclusion Our study supports the current literature demonstrating improved outcomes, shorter overall LOS and decreased risk of complications when infants with HPS are treated in pediatric centres. This should be considered when planning access to pediatric surgical resources. PMID:27669400

  15. Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation

    PubMed Central

    Spiegel, Ronen; Saada, Ann; Flannery, Padraig J; Burté, Florence; Soiferman, Devorah; Khayat, Morad; Eisner, Verónica; Vladovski, Eugene; Taylor, Robert W; Bindoff, Laurence A; Shaag, Avraham; Mandel, Hanna; Schuler-Furman, Ora; Shalev, Stavit A; Elpeleg, Orly; Yu-Wai-Man, Patrick

    2016-01-01

    Background Infantile-onset encephalopathy and hypertrophic cardiomyopathy caused by mitochondrial oxidative phosphorylation defects are genetically heterogeneous with defects involving both the mitochondrial and nuclear genomes. Objective To identify the causative genetic defect in two sisters presenting with lethal infantile encephalopathy, hypertrophic cardiomyopathy and optic atrophy. Methods We describe a comprehensive clinical, biochemical and molecular genetic investigation of two affected siblings from a consanguineous family. Molecular genetic analysis was done by a combined approach involving genome-wide autozygosity mapping and next-generation exome sequencing. Biochemical analysis was done by enzymatic analysis and Western blot. Evidence for mitochondrial DNA (mtDNA) instability was investigated using long-range and real-time PCR assays. Mitochondrial cristae morphology was assessed with transmission electron microscopy. Results Both affected sisters presented with a similar cluster of neurodevelopmental deficits marked by failure to thrive, generalised neuromuscular weakness and optic atrophy. The disease progression was ultimately fatal with severe encephalopathy and hypertrophic cardiomyopathy. Mitochondrial respiratory chain complex activities were globally decreased in skeletal muscle biopsies. They were found to be homozygous for a novel c.1601T>G (p.Leu534Arg) mutation in the OPA1 gene, which resulted in a marked loss of steady-state levels of the native OPA1 protein. We observed severe mtDNA depletion in DNA extracted from the patients’ muscle biopsies. Mitochondrial morphology was consistent with abnormal mitochondrial membrane fusion. Conclusions We have established, for the first time, a causal link between a pathogenic homozygous OPA1 mutation and human disease. The fatal multisystemic manifestations observed further extend the complex phenotype associated with pathogenic OPA1 mutations, in particular the previously unreported association

  16. Linkage analysis of infantile pyloric stenosis and markers from chromosome 9q11-q33: no evidence for a major gene in this candidate region.

    PubMed Central

    Chung, E; Coffey, R; Parker, K; Tam, P; Pembrey, M E; Gardiner, R M

    1993-01-01

    A genetic component in the aetiology of infantile pyloric stenosis (PS) is well established. Segregation analysis is compatible with a multifactorial sex modified threshold model of inheritance but a major gene of low penetrance has not been excluded. PS has been reported to occur in 57% (four of seven) of cases with duplication of chromosome 9q11-q33. Twenty families with PS were studied using genetic markers at loci D9S55, D9S111, D9S15, D9S12, D9S56, D9S59, and ASS from this region of chromosome 9. Pairwise lod scores of -2 were obtained with all these markers at recombination fractions greater or equal to 0.04 under both autosomal dominant and autosomal recessive models of inheritance. This provides evidence against the existence of a major locus predisposing to PS within chromosome 9q11-q33. PMID:8320701

  17. Prematurity Affects Age of Presentation of Pyloric Stenosis.

    PubMed

    Costanzo, Caitlyn M; Vinocur, Charles; Berman, Loren

    2017-02-01

    Term infants with hypertrophic pyloric stenosis (HPS) typically present between 4 and 6 weeks. There is limited consensus, however, regarding age of presentation of premature infants. We aim to determine if there is an association between the degree of prematurity and chronological age of presentation of HPS. A total of 2988 infants who had undergone a pyloromyotomy for HPS were identified from the 2012 and 2013 NSQIP-P Participant Use Files. Two hundred seventeen infants (7.3%) were born prematurely. A greater degree of prematurity was associated with an older chronological age of presentation ( P < .0001). Prematurity was significantly associated with an increase in overall postoperative morbidity, reintubation, readmission, and postoperative length of stay. When clinicians evaluate an infant with nonbilious emesis with a history of prematurity, they should consider pyloric stenosis if the calculated postconceptional age is between 44 and 50 weeks. When counseling families of premature infants, surgeons should discuss the increased incidence of postpyloromyotomy morbidity.

  18. Epidermolysis bullosa and congenital pyloric atresia

    PubMed Central

    Mithwani, Anwar Adil; Hashmi, Asif; Adil, Salman

    2013-01-01

    The association between epidermolysis bullosa (EB) and pyloric atresia (PA) is rare but well documented. Herein, we report a case of EB associated with congenital PA. A female baby, weighing 1480 g, was born vaginally to a 31-year-old gravida 7 lady at 33 weeks of gestation. Polyhydramnios was detected on antenatal assessment. The parents were non-consanguineous Saudis with no family history of significant illness. At birth, well-demarcated areas of peeled skin were present over knees, left leg and periumbilical region. Systemic examination revealed no other abnormality. On second day, the patient developed recurrent vomiting and abdominal distension. An abdominal X-ray revealed a single gastric gas bubble suggesting pyloric obstruction. Following gastroduodenostomy, the baby developed severe sepsis with multiorgan dysfunction and expired on 25th day of life. Skin biopsy showed cleavage within lamina lucida. PMID:24068383

  19. Trends in pyloric stenosis incidence, Atlanta, 1968 to 1982.

    PubMed Central

    Lammer, E J; Edmonds, L D

    1987-01-01

    Four studies reported an increasing incidence of pyloric stenosis during the late 1970s from geographically diverse areas of the United Kingdom. It was suggested that the increased incidence might be related to changes in infant feeding practices. We used data from the Metropolitan Atlanta Congenital Defects Program, a population based birth defects registry, to examine the secular trends and descriptive epidemiology of pyloric stenosis in a North American city. For the period 1968 to 1982, the incidence of pyloric stenosis was 1.33 per 1000 live births; there was no evidence of an increasing trend for either race or sex specific rates of pyloric stenosis. The descriptive epidemiology of the pyloric stenosis cases showed higher rates for males, whites, and infants of higher birth weight. We found no increasing trend in pyloric stenosis incidence in Atlanta, despite well documented changes in US infant feeding practices (an increased prevalence of breast feeding) during the 1970s. PMID:3656370

  20. Torus hyperplasia of the pyloric antrum.

    PubMed

    Kim, Chi-Hun; Han, Hye Seung; Lee, Sun-Young; Kim, Byung Kook; Sung, In-Kyung; Seong, Moo Kyung; Lee, Kyung Yung

    2010-01-01

    Primary or idiopathic hypertrophy of the pyloric muscle in adult, so called torus hyperplasia, is an infrequent but an established entity. It is caused by a circular muscle hypertrophy affecting the lesser curvature near the pylorus. Since most of the lesions are difficult to differentiate from tumor, distal gastrectomy is usually preformed to rule out most causes of pyloric lesions including neoplastic ones through a pathological study. A 56-yr-old man with a family history of gastric cancer presented with abdominal discomfort of 1 month duration. Upper gastrointestinal endoscopy showed a 1.0 cm sized irregular submucosal lesion proximal to the pylorus to the distal antrum on the lesser curvature. On colonoscopy examination, a 1.5 cm sized protruding mass was noticed on the appendiceal orifice. Gastrectomy and cecectomy were done, and histological section revealed marked hypertrophy of the distal circular pyloric musculature and an appendiceal mucocele. To the best of our knowledge, this is the first case of torus hyperplasia with appendiceal mucocele which is found incidentally.

  1. Identification of groupers based on pyloric caeca differentiation.

    PubMed

    Roy, T S C; Gopalakrishnan, A

    2011-11-01

    The examination of nine species of groupers present in south-east Indian waters has indicated that the pyloric caeca number, pattern and colouration are reliable and useful characters for identification. Three distinct morphotypes of pyloric caeca were observed in this study.

  2. Genetics Home Reference: epidermolysis bullosa with pyloric atresia

    MedlinePlus

    ... Facebook Share on Twitter Your Guide to Understanding Genetic Conditions Search MENU Toggle navigation Home Page Search ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions epidermolysis bullosa with pyloric atresia ...

  3. [Ultrasound diagnosis of pyloric stenosis in young children].

    PubMed

    Krivchenia, D Iu; Babko, S A; Chekanova, L R

    1992-01-01

    The results of observation of 12 children ranging in age from 1 to 4 mos with tentative diagnosis of pyloric stenosis are presented. The study was performed by special method, using "Aloka" SSD-280 (Japan) ultrasound apparatus. The characteristic symptoms of the disease were revealed in 9 children, diagnosis of pyloric stenosis was confirmed by means of endoscopy, palpation, and intraoperatively. The use of US is practically harmless, and can completely substitute for a roentgenologic method in detecting the given congenital pathology.

  4. Risk factors and management for pyloric stenosis occurred after endoscopic submucosal dissection adjacent to pylorus

    PubMed Central

    Lee, Jae Un; Park, Moon Sik; Yun, So Hee; Yang, Min A.; Han, Shang Hoon; Lee, Young Jae; Jung, Gum Mo; Kim, Ji Woong; Cho, Yong Keun; Cho, Jin Woong

    2016-01-01

    Abstract Endoscopic submucosal dissection (ESD) has been widely accepted as a curative treatment for gastric neoplasm. Pyloric stenosis is a chronic complication that can be caused by ESD. The aim of this study is to clarify the risk factors and management for pyloric stenosis. From January 2004 to January 2014, a total of 126 patients who underwent ESD adjacent to pylorus were reviewed retrospectively. Pyloric mucosal defect was defined as when any resection margin of ESD was involved in the pyloric ring. Pyloric stenosis was defined as when a conventional endoscope could not be passed to the duodenum. Among the 126 patients, pyloric stenosis was identified in 9. In a univariate analysis, pyloric stenosis was more common in older patients (P < 0.05) and in lesions with resections over 75% of the pyloric ring circumference (P < 0.001). In a multivariate analysis, the factor that was associated with pyloric stenosis was the extent of the pyloric ring dissection (P < 0.001). Four of the 9 patients with pyloric stenosis had mild dyspepsia, and the others had gastric outlet obstruction symptoms. The 5 symptomatic patients underwent endoscopic balloon dilation (EBD), and the frequency of EBD was 1 to 8 times. The asymptomatic patients were treated conservatively. The incidence of pyloric stenosis was higher in lesions with resections over 75% of the pyloric ring circumference. Although EBD was an effective treatment for pyloric stenosis, conservative management was also helpful in patients who had mild symptoms. PMID:27977608

  5. [Hypertrophic cardiomyopathy. Arrhythmia in hypertrophic cardiomyopathy].

    PubMed

    Colín Lizalde, Luis de Jesús

    2003-01-01

    Hypertrophic cardiomyopathy is a relatively common genetic disorder with heterogeneity in mutations, forms of presentation, prognosis and treatment strategies. Hypertrophic cardiomyopathy is recognized as the most common cause of sudden cardiac death that occurs in young people, including athletes. The clinical diagnosis is complemented with the ecocardiographic study, in which an abnormal myocardial hypertrophy of the septum can be observed in the absence of a cardiac or systemic disease (arterial systemic hypertension, aortic stenosis). The annual sudden mortality rate is 1% and, in selected populations, it ranges between 3 and 6%. The therapeutic strategies depend on the different subsets of patients according to the morbidity and mortality, sudden cardiac death, obstructive symptoms, heart failure or atrial fibrillation and stroke. High risk patients for sudden death may effectively be treated with the automatic implantable cardioverter-defibrillator.

  6. Pyloric atresia: A report of ten patients.

    PubMed

    Ksia, Amine; Zitouni, Hayett; Zrig, Ahmad; Laamiri, Rachida; Chioukh, Fatma; Ayari, Eya; Sahnoun, Lassaad; Maazoun, Kais; Krichene, Imed; Mekki, Mongi; Belghith, Mohsen; Nouri, Abdellatif

    2013-01-01

    Pyloric atresia (PA) is uncommon. It occurs in 1:100000 live births. Neonates usually present soon after birth with copious non-bilious vomiting. The treatment is surgical and its prognosis is poor, especially, when it is associated with epidermolysis bullosa (EB). The aim of this study was to evaluate the clinical presentation, diagnosis, operative management, post-operative courses, and outcome in infant with PA, based in our cases and literature review. Charts of 10 patients who underwent surgery for PA in the department of paediatric surgery in a Teaching Hospital in Tunisia (Monastir) between 1990 and 2012 were reviewed. Data were analysed for demographic, clinical, therapeutic, and prognostic characteristics. The average of age at presentation was 2 days and there were six males and four females. The main presenting symptoms were non-bilious vomiting in 90% of cases. Abdominal X-ray showed gastric dilatation with an absence of gas in the rest of the intestinal tract in 90%, and a pneumoperitoneum in one. The surgical approach was laparotomy in all cases. Gastric perforation was observed in one patient and was completely repaired. The distribution of the anatomic variations was type A in nine cases and type B in one. Five patients underwent excision of the diaphragm and Heineke-Mikulicz pyloroplasty and gastroduodenostomy in the other five cases. Identified associated anomalies were Down's syndrome in one and EB in 2 (20%), one family has three affected sibling. Post-operative mortality rate was 70%. No standard surgical approach can be adopted a better management of PA or the associated anomalies depends on an early diagnosis and the availability of neonatal intensive care unit.

  7. Gallbladder carcinoma - a rare cause of pyloric-duodenal stenosis.

    PubMed

    Niculescu, Zizi; Ulmeanu, Victoria; Ghinea, Mihaela Maria; Mocanu, Liliana; Niculescu, Costin; Grigorian, Mircea

    2016-01-01

    Pyloric duodenal stenosis is usually caused by pyloric, juxtapyloric or duodenal ulcer, or by postbulbar ulcer. Gallbladder cancer (GBC), duodenal diverticula, annular pancreas and superior mesenteric artery syndrome (Wilkie's syndrome) are rare causes of pyloric duodenal stenosis. The case of a 66-year-old female patient is presented. The patient was admitted to hospital presenting anorexia, repeated alimentary vomiting, epigastric pain, and weight loss. Objective clinical examination upon admission: clapotage à jeun is present, triggered by tapping the epigastric region. Laboratory tests reveal moderate anemia, hypokalemic alkalosis, increased levels of cholestatic enzymes and of tumor markers. Gastroendoscopy: Stomach presenting stasis fluid in large quantity. Deformed antropyloric region caused by extrinsic compression. Abdominal native magnetic resonance imaging (MRI) and with contrast medium: cholecyst lumen entirely obstructed with calculi; thickened wall, with heterogeneous gadolinophilia; gadolinophilic mass erasing the bordering limit in relation to the cholecyst wall and the colon hepatic angle, and leaving a print on the pyloric region. During surgery, upon opening the peritoneal cavity, a tumoral pericholecystic block was observed, including the pyloric-duodenal region and the transverse mesocolon. Histopathology tests of tissue samples showed adipose conjunctive tissue with invasive adenocarcinoma. Immunohistochemical tests [cytokeratin (CK) 7, CK17, CK19, CK20, CDX2, mucin (MUC) 1, MUC2, MUC5AC, MUC6, epithelial membrane antigen (EMA) and carcinoembryonic antigen (CEA)] were consistent with infiltrating neoplastic carcinoma, originating in the gallbladder epithelium. Gastrointestinal obstruction cases caused by gallbladder carcinoma are rare. The pyloric-duodenal region is more frequently affected, as compared to the small intestine or the colon.

  8. Gastric versus post-pyloric feeding: a systematic review

    PubMed Central

    Marik, Paul E; Zaloga, Gary P

    2003-01-01

    Background Our objective was to evaluate the impact of gastric versus post-pyloric feeding on the incidence of pneumonia, caloric intake, intensive care unit (ICU) length of stay (LOS), and mortality in critically ill and injured ICU patients. Method Data sources were Medline, Embase, Healthstar, citation review of relevant primary and review articles, personal files, and contact with expert informants. From 122 articles screened, nine were identified as prospective randomized controlled trials (including a total of 522 patients) that compared gastric with post-pyloric feeding, and were included for data extraction. Descriptive and outcomes data were extracted from the papers by the two reviewers independently. Main outcome measures were the incidence of nosocomial pneumonia, average caloric goal achieved, average daily caloric intake, time to the initiation of tube feeds, time to goal, ICU LOS, and mortality. The meta-analysis was performed using the random effects model. Results Only medical, neurosurgical and trauma patents were enrolled in the studies analyzed. There were no significant differences in the incidence of pneumonia, percentage of caloric goal achieved, mean total caloric intake, ICU LOS, or mortality between gastric and post-pyloric feeding groups. The time to initiation of enteral nutrition was significantly less in those patients randomized to gastric feeding. However, time to reach caloric goal did not differ between groups. Conclusion In this meta-analysis we were unable to demonstrate a clinical benefit from post-pyloric versus gastric tube feeding in a mixed group of critically ill patients, including medical, neurosurgical, and trauma ICU patients. The incidences of pneumonia, ICU LOS, and mortality were similar between groups. Because of the delay in achieving post-pyloric intubation, gastric feeding was initiated significantly sooner than was post-pyloric feeding. The present study, while providing the best current evidence regarding

  9. Pyloric obstruction secondary to epicardial pacemaker implantation: a case report.

    PubMed

    Bedoya Nader, G; Kellihan, H B; Bjorling, D E; McAnulty, J

    2017-02-01

    A 10-year old Lhasa Apso dog was presented for an acute history of exercise intolerance and hind limb weakness. High grade second degree atrioventricular block with an atrial rate of 200 beats per minute, ventricular rate of 40 beats per minute and an intermittent ventricular escape rhythm, was diagnosed on electrocardiograph. A transdiaphragmatic, unipolar, epicardial pacemaker was implanted without immediate surgical complications. Severe vomiting was noted 12 h post-operatively. Abdominal ultrasound and a barium study supported a diagnosis of pyloric outflow obstruction and exploratory abdominal surgery was performed. The pyloric outflow tract appeared normal and no other causes of an outflow obstruction were identified. The epicardial generator was repositioned from the right to the left abdominal wall. Pyloric cell pacing was presumed to be the cause for the pyloric obstruction and severe vomiting, and this was thought to be due to close proximity of the pacemaker generator to the pylorus situated in the right abdominal wall. Repositioning of the pulse generator to the left abdominal wall resulted in resolution of vomiting.

  10. Bendectin (Debendox) as a risk factor for pyloric stenosis.

    PubMed

    Eskenazi, B; Bracken, M B

    1982-12-15

    The maternal use of Bendectin (Debendox) in the first trimester of pregnancy was examined in a case-control (n = 1,427 and 3,001, respectively) study of malformed infants whose mothers were interviewed between 1974 and 1976. Mothers of infants with congenital malformation showed an increased likelihood (odds ratio = 1.40) of having used Bendectin, with a stronger association of Bendectin with birth defects for mothers who also smoked (odds ratio = 2.91). A significant association was observed between the occurrence of pyloric stenosis in the infant and exposure to Bendectin in utero (odds ratio = 4.33). When maternal sociodemographic factors, including smoking, and smoking alone, were controlled, the association between Bendectin and pyloric stenosis was further increased (odds ratio = 4.63 and 5.24, respectively). Except for a possible association of Bendectin with heart valve anomalies (odds ratio = 2.99), we were unable to document other significantly increased risks for congenital malformations.

  11. Pyloric trichobezoar in a Canadian lynx (Lynx canadensis).

    PubMed

    Kottwitz, Jack; Munsterman, Amelia S

    2013-12-01

    An adult female Canadian lynx (Lynx canadensis) was presented with a 3-wk history of anorexia and lethargy. Initial examination and diagnostics did not provide a diagnosis. The lynx continued to demonstrate vague clinical signs, including anorexia and an abnormal gait. During follow-up immobilizations 2 wk later, a barium gastrointestinal study revealed a pyloric obstruction. Abdominal exploratory surgery was elected, and a gastrotomy and an enterotomy of the proximal duodenum were performed to remove the pyloric obstruction. The obstruction was determined to be a trichobezoar. Fleas, a likely cause of hair ingestion through grooming, were noted during surgical preparation. The lynx made a full recovery from surgery. Reoccurrence of the trichobezoar was prevented after surgery with the use of monthly flea control and three times a week hairball laxative.

  12. [Pyloric stenosis complicated by Wernicke-Korsakoff syndrome].

    PubMed

    Bataller, R; Salmerón, J M; Muñoz, J E; Obach, V; Elizalde, J I; Mas, A; Tolosa, E; Terés, J

    1997-03-01

    The Wernicke-Korsakoff syndrome (WKS) is a picture of oculomotor alterations, ataxia and confusion presented in chronic alcoholics. It has more rarely been described in non alcoholic patients with malnutrition. The case of a patient with ulcerous peptic disease of long evolution who consulted for a picture compatible with WKS following clinical manifestations of repeated vomiting secondary to complete pyloric stenosis is presented. The peculiarity of the picture and the convenience of prevention in malnourished patients receiving intravenous glucose sera is discussed.

  13. [Primary hepatic infantile hemangioendothelioma (author's transl)].

    PubMed

    Pollice, L; Pagliarulo, G

    1975-01-01

    Primary hepatic infantile hemangioendothelioma is a rare tumor, characterized by its appearance in early infancy as well as by the frequent association with various malformations and with similar angiomatous tumors of other tissues and organs. It may be single or multinodular and it is often complicated by severe peritoneal hemorrhage. Tow histologic types of this tumor are known: tipe 1 is sharply circumscribed and is considered similar to so called capillary hypertrophic hemangioma, while type 2, by showing aggressive, infiltrative and anaplastic features, is rather close to angiosarcoma. Clinical and pathological data concerning two cases of type 2 primary hepatic infantile hemangioendothelioma are reported. On the basis of experimental results and epidemiological data on hepatic angiosarcoma of adults, a possible etiopathogenetic relationship with maternal exposure during pregnancy to dangerous environmental factors is postulated.

  14. Update on hypertrophic scar treatment

    PubMed Central

    Rabello, Felipe Bettini; Souza, Cleyton Dias; Júnior, Jayme Adriano Farina

    2014-01-01

    Scar formation is a consequence of the wound healing process that occurs when body tissues are damaged by a physical injury. Hypertrophic scars and keloids are pathological scars resulting from abnormal responses to trauma and can be itchy and painful, causing serious functional and cosmetic disability. The current review will focus on the definition of hypertrophic scars, distinguishing them from keloids and on the various methods for treating hypertrophic scarring that have been described in the literature, including treatments with clearly proven efficiency and therapies with doubtful benefits. Numerous methods have been described for the treatment of abnormal scars, but to date, the optimal treatment method has not been established. This review will explore the differences between different types of nonsurgical management of hypertrophic scars, focusing on the indications, uses, mechanisms of action, associations and efficacies of the following therapies: silicone, pressure garments, onion extract, intralesional corticoid injections and bleomycin. PMID:25141117

  15. Effect of glucose supplementation on appetite and the pyloric motor response to intraduodenal glucose and lipid.

    PubMed

    Andrews, J M; Doran, S; Hebbard, G S; Rassias, G; Sun, W M; Horowitz, M

    1998-04-01

    The effects of different macronutrients on appetite and pyloric motility and the impact of short-term dietary glucose supplementation on these responses were evaluated. Ten males (aged 19-38 yr) received isocaloric (2.9 kcal/min) intraduodenal infusions of glucose and lipid while antropyloroduodenal motility and appetite were assessed by manometry and visual analog scales, respectively. Effects of each intraduodenal nutrient on appetite and motility were evaluated before and after 7 days of dietary supplementation with glucose (400 g daily). Initially, both nutrients caused a similar rise in pyloric tone, but intraduodenal lipid was a more potent stimulus of phasic pyloric motility (P = 0.05) and suppressed appetite more (P = 0.013) than intraduodenal glucose. After dietary glucose supplementation, the increase in pyloric tone during intraduodenal glucose was attenuated. Although intraduodenal lipid remained a more potent stimulant of phasic pyloric motility (P = 0.016), it no longer decreased appetite. We conclude that in healthy young males 1) intraduodenal infusion of lipid is a more potent stimulus of phasic pyloric motility and suppresses appetite more than intraduodenal glucose and 2) dietary glucose supplementation alters both the appetite suppressant effect of intraduodenal lipid and the pyloric motor response to intraduodenal glucose infusion.

  16. Infantilizing Autism.

    PubMed Central

    Stevenson, Jennifer L.; Harp, Bev; Gernsbacher, Morton Ann

    2014-01-01

    When members of the public envision the disability of autism, they most likely envision a child, rather than an adult. In this empirically based essay, three authors, one of whom is an autistic self-advocate, analyzed the role played by parents, charitable organizations, the popular media, and the news industry in infantilizing autism. Parents portrayed the face of autism to be that of a child 95% of the time on the homepages of regional and local support organizations. Nine of the top 12 autism charitable organizations restricted descriptions of autism to child-referential discourse. Characters depicted as autistic were children in 90% of fictional books and 68% of narrative films and television programs. The news industry featured autistic children four times as often as they featured autistic adults in contemporary news articles. The cyclical interaction between parent-driven autism societies, autism fundraising charities, popular media, and contemporary news silences adult self-advocates by denying their very existence. Society's overwhelming proclivity for depicting autism as a disability of childhood poses a formidable barrier to the dignity and well-being of autistic people of all ages. PMID:25520546

  17. Gastric lipoma and pyloric obstruction in a 51-year-old woman.

    PubMed

    Furtado, W S; Mello, D A C P G; Santos, V M; Bringel, T L; Oliveira Junior, W P; Moura, H J L

    2013-01-01

    Gastric lipoma is considered a rare condition that may constitute a challenging diagnosis. A 51-year-old woman presented dysphagia and abdominal pain, and an upper digestive endoscopic study disclosed a gastric tumor located in the submucosa of the pyloric antrum. Conclusive diagnosis was established after repeated endoscopic biopsies, and the patient was subjected to an atypical gastrectomy, which evolved into a pyloric stenosis. This complication was appropriately corrected and the patient remains symptomless, under outpatient surveillance.

  18. Hypertrophic cardiomyopathy in Friedreich's ataxia.

    PubMed

    Fayssoil, A; Nardi, O; Orlikowski, D; Annane, D

    2008-07-21

    Friedreich's ataxia is an autosomal recessive disorder characterized by spinocerebellar degeneration. It is caused by a mutation that consists of an unstable expansion of GAA repeats in the first intron of the gene encoding frataxin on chromosome 9 (9q13). We reported a case of hypertrophic cardiomyopathy associated with Friedreich's ataxia in a twenty year old patient.

  19. Pyloric ceca of fish: a new absorptive organ

    SciTech Connect

    Buddington, R.K.; Diamond J.M.

    1987-01-01

    The functions of the blind appendages attached to the proximal intestine of many fish, the pyloric ceca, have been disputed. Hence the authors recorded morphological parameters and nutrient uptake rates in the ceca and intestine of four fish species (rainbow trout, cod, largemouth bass, and striped bass) with various degrees of cecal development. Proline and glucose uptake, measured in vitro, is similar in the ceca and proximal intestine. For these two solutes in these four species, and for 10 other solutes (9 amino acids and 1 dipeptide) in trout, the ceca contribute about the same percentage to uptake as to total gut area. Trout ceca and intestine have similar membrane-bound disaccharidase activity. Separate experiments with trout fed either graded glass beads or a radiopaque marker and then X-rayed show that the ceca fill and empty with particles <150 ..mu..m and over the same time course as the proximal intestine. Thus ceca are an adaptation for increasing intestinal surface area without increasing the length or thickness of the intestine itself. Fish ceca are entirely different from the distally located ceca of birds and mammals, which have fermentation functions.

  20. Mathematical Modeling of Subthreshold Resonant Properties in Pyloric Dilator Neurons

    PubMed Central

    Vazifehkhah Ghaffari, Babak; Kouhnavard, Mojgan; Aihara, Takeshi; Kitajima, Tatsuo

    2015-01-01

    Various types of neurons exhibit subthreshold resonance oscillation (preferred frequency response) to fluctuating sinusoidal input currents. This phenomenon is well known to influence the synaptic plasticity and frequency of neural network oscillation. This study evaluates the resonant properties of pacemaker pyloric dilator (PD) neurons in the central pattern generator network through mathematical modeling. From the pharmacological point of view, calcium currents cannot be blocked in PD neurons without removing the calcium-dependent potassium current. Thus, the effects of calcium (ICa) and calcium-dependent potassium (IKCa) currents on resonant properties remain unclear. By taking advantage of Hodgkin-Huxley-type model of neuron and its equivalent RLC circuit, we examine the effects of changing resting membrane potential and those ionic currents on the resonance. Results show that changing the resting membrane potential influences the amplitude and frequency of resonance so that the strength of resonance (Q-value) increases by both depolarization and hyperpolarization of the resting membrane potential. Moreover, hyperpolarization-activated inward current (Ih) and ICa (in association with IKCa) are dominant factors on resonant properties at hyperpolarized and depolarized potentials, respectively. Through mathematical analysis, results indicate that Ih and IKCa affect the resonant properties of PD neurons. However, ICa only has an amplifying effect on the resonance amplitude of these neurons. PMID:25960999

  1. Mathematical modeling of subthreshold resonant properties in pyloric dilator neurons.

    PubMed

    Vazifehkhah Ghaffari, Babak; Kouhnavard, Mojgan; Aihara, Takeshi; Kitajima, Tatsuo

    2015-01-01

    Various types of neurons exhibit subthreshold resonance oscillation (preferred frequency response) to fluctuating sinusoidal input currents. This phenomenon is well known to influence the synaptic plasticity and frequency of neural network oscillation. This study evaluates the resonant properties of pacemaker pyloric dilator (PD) neurons in the central pattern generator network through mathematical modeling. From the pharmacological point of view, calcium currents cannot be blocked in PD neurons without removing the calcium-dependent potassium current. Thus, the effects of calcium (I(Ca)) and calcium-dependent potassium (I(KCa)) currents on resonant properties remain unclear. By taking advantage of Hodgkin-Huxley-type model of neuron and its equivalent RLC circuit, we examine the effects of changing resting membrane potential and those ionic currents on the resonance. Results show that changing the resting membrane potential influences the amplitude and frequency of resonance so that the strength of resonance (Q-value) increases by both depolarization and hyperpolarization of the resting membrane potential. Moreover, hyperpolarization-activated inward current (I(h)) and I(Ca) (in association with I(KCa)) are dominant factors on resonant properties at hyperpolarized and depolarized potentials, respectively. Through mathematical analysis, results indicate that I h and I(KCa) affect the resonant properties of PD neurons. However, I(Ca) only has an amplifying effect on the resonance amplitude of these neurons.

  2. [The origin of hypertrophic cardiomyopathy].

    PubMed

    Moiseev, V S

    1985-01-01

    The author describes the clinical cases of hypertrophic cardiomyopathy (CMP). The development of obstructive CMP in a patient with hyperparathyroidism indicates a possible pathogenetic role of endocrine factors and calcium metabolism abnormalities. The familial character of the disease and its combination with hereditary diseases (familial microspherocytosis) point to the significance of genetic factors. In addition, marked hypertrophy of the myocardium (without dilatation) including hypertrophy with obstruction of the outflow tract of the left ventricle was observed in nonspecific protracted myocarditis, alcoholic injury to the heart, in athletes, in coronary heart disease (after survival of myocardial infarction). It is suggested that hypertrophic CMP (similarly to restrictive and congestive CMP) is most likely a syndrome of varying origin.

  3. A rhythmic modulatory gating system in the stomatogastric nervous system of Homarus gammarus. III. Rhythmic control of the pyloric CPG.

    PubMed

    Cardi, P; Nagy, F

    1994-06-01

    1. Two modulatory neurons, P and commissural pyloric (CP), known to be involved in the long-term maintenance of pyloric central pattern generator operation in the rock lobster Homarus gammarus, are members of the commissural pyloric oscillator (CPO), a higher-order oscillator influencing the pyloric network. 2. The CP neuron was endogenously oscillating in approximately 30% of the preparations in which its cell body was impaled. Rhythmic inhibitory feedback from the pyloric pacemaker anterior burster (AB) neuron stabilized the CP neuron's endogenous rhythm. 3. The organization of the CPO is described. Follower commissural neurons, the F cells, and the CP neuron receive a common excitatory postsynaptic potential from another commissural neuron, the large exciter (LE). When in oscillatory state, CP in turn excites the LE neuron. This positive feedback may maintain long episodes of CP oscillations. 4. The pyloric pacemaker neurons follow the CPO rhythm with variable coordination modes (i.e., 1:1, 1:2) and switch among these modes when their membrane potential is modified. The CPO inputs strongly constrain the pyloric period, which as a result may adopt only a few discrete values. This effect is based on mechanisms of entrainment between the CPO and the pyloric oscillator. 5. Pyloric constrictor neurons show differential sensitivity from the pyloric pacemaker neurons with respect to the CPO inputs. Consequently, their bursting period can be a shorter harmonic of the bursting period of the pyloric pacemakers neurons. 6. The CPO neurons seem to be the first example of modulatory gating neurons that also give timing cues to a rhythmic pattern generating network.

  4. Hypertrophic lupus vulgaris: an unusual presentation.

    PubMed

    Jain, Vijay K; Aggarwal, Kamal; Jain, Sarika; Singh, Sunita

    2009-07-01

    Lupus vulgaris is the most common form of cutaneous tuberculosis occurring in previously sensitized individuals with a high degree of tuberculin sensitivity. Various forms including plaque, ulcerative, hypertrophic, vegetative, papular, and nodular forms have been described. A 30-year-old male patient presented with a very large hypertrophic lupus vulgaris lesion over left side of chest since 22 years. Histopathological examination showed granulomatous infiltration without caseation necrosis. The Mantoux reaction was strongly positive. Hypertrophic lupus vulgaris of such a giant size and that too at an unusual site is extremely rare and hence is being reported.

  5. Laser application for hypertrophic rhinitis

    NASA Astrophysics Data System (ADS)

    Inouye, Tetsuzo; Tanabe, Tetsuya; Nakanoboh, Manabu; Ogura, Masami

    1995-05-01

    The CO2 and KTP/532 lasers have been used in the treatment of an allergic and hypertrophic rhinitis for the past several years. As we know, the laser enables a surgeon to perform the operation with minimum hemorrhage and minimized pain, during and after the procedure. Additionally many of these operations can be performed under local anesthesia instead of general anesthesia, on an outpatient basis. The laser is used to irradiate the mucous membranes of the inferior turbinates. Vaporization and cutting is easily done. Post operative management of the local operated area is easy. The advantages of laser surgery over regular surgical techniques are supreme for intranasal operations when performed under local anesthesia.

  6. Hypertrophic cardiomyopathy: the early years.

    PubMed

    Braunwald, Eugene

    2009-12-01

    Hypertrophic obstructive cardiomyopathy (HOCM) has four major features: (1) severe left ventricular hypertrophy, often most prominent in the basal interventricular septum; (2) frequent familial occurrence with autosomal dominant transmission; (3) occurrence of sudden cardiac death that is usually considered to be due to ventricular fibrillation; and (4) presence of hemodynamic evidence of labile intraventricular obstruction. The key papers describing the recognition of each of these features, as well as of various combinations of them, are reviewed in this paper. Particular attention is focused on the very frequent finding of marked lability of intraventricular obstruction. The recognition of this fourth and last major feature in 1959 makes 2009 the golden anniversary year marking completion of the description of the major features of HOCM.

  7. Genetics of hypertrophic and dilated cardiomyopathy.

    PubMed

    Friedrich, Felix W; Carrier, Lucie

    2012-10-01

    Cardiomyopathies are categorized as extrinsic, being caused by external factors, such as hypertension, ischemia, inflammation, valvular dysfunction, or as intrinsic, which correspond to myocardial diseases without identifiable external causes. These so called primary cardiomyopathies can be categorized in four main forms: hypertrophic, dilated, restrictive, and arrhythmogenic right ventricular cardiomyopathy. Cardiomyopathies are diagnosed by clinical expression, echocardiography, electrocardiography, non-invasive imaging, and sometimes by cardiac catheterization to rule out external causes as ischemia. The two main forms of primary cardiomyopathies are the hypertrophic and dilated cardiomyopathies. Most of hypertrophic cardiomyopathy and 20-50% of dilated cardiomyopathy are familial showing a wide genetic and phenotypic heterogeneity. This review presents the current knowledge on the causative genes, molecular mechanisms and the genotype � phenotype relations of hypertrophic and dilated cardiomyopathies.

  8. Acute infantile motor unit disorder. Infantile botulism?

    PubMed

    Clay, S A; Ramseyer, J C; Fishman, L S; Sedgwick, R P

    1977-04-01

    Eight infants with an acute reversible motor unit disorder are described, including two infants from whom Clostridum botulinum type A was isolated from stool specimens. The clinical spectrum includes constipation, cranial nerve deficits, pupillary involvement, and generalized hypotonic weakness. There were no deaths, and all infants have had complete clinical recovery. A characteristic electromyographic (EMG) pattern was present in part until clinical recovery. This distinctive pattern consisted of brief, small, abundant for power exerted motor unit potentials. This EMG pattern in the context of the clinical syndrome may well be diagnostic for acute infantile motor unit disorder.

  9. Parasitisation by Bathycreadium elongatum (Digenea, Opecoelidae) in pyloric caeca of Trachyrincus scabrus (Teleostei, Macrouridae).

    PubMed

    Constenla, M; Carrassón, M; Moyà, C M; Fernàndez-Chacón, A; Padrós, F; Repullés-Albelda, A; Montero, F E

    2011-10-06

    A novel process of transmural passive displacement of a digenean parasite was studied in the digestive tract of the roughsnout grenadier Trachyrincus scabrus, which is found in the northwestern Mediterranean Sea. This mechanism seems to facilitate the elimination of a significant portion of intestinal parasites. The digenean parasite Bathycreadium elongatum was found in the intestine, mainly within pyloric caeca, in 74.4% of T. scabrus, with a mean abundance of 44 individuals per fish. Nodule-like lesions were also found in the mesentery of pyloric caeca of infected T. scabrus. Histological sections of the nodules revealed granulomatous inflammatory responses surrounding degraded digeneans. Partial nucleotide sequences of the 28S rRNA gene obtained from intracaecal B. elongatum and from the core of the nodules of the mesentery of pyloric caeca showed 100% mutual identity with an overlap of 971 bp. The greatest abundance of both intracaecal B. elongatum and nodules occurred in spring. During summer, and especially autumn, the abundance of intracaecal B. elongatum decreased. Prevalence and abundance of nodules increased in autumn. In winter intracaecal parasite abundance and prevalence began to increase, but decreased again in nodules. During spring and summer, parasites pass into the visceral cavity, hypothetically owing to the fragility of the wall of pyloric caeca in their apical zone, and become degraded through a granulomatous inflammatory response. This process seems to have a detrimental effect on the B. elongatum cycle since some of parasites are trapped and degrade in the connective tissue in which they are unable to complete their life cycle.

  10. Shifts in the Midgut/Pyloric Microbiota Composition within a Honey Bee Apiary throughout a Season.

    PubMed

    Ludvigsen, Jane; Rangberg, Anbjørg; Avershina, Ekaterina; Sekelja, Monika; Kreibich, Claus; Amdam, Gro; Rudi, Knut

    2015-01-01

    Honey bees (Apis mellifera) are prominent crop pollinators and are, thus, important for effective food production. The honey bee gut microbiota is mainly host specific, with only a few species being shared with other insects. It currently remains unclear how environmental/dietary conditions affect the microbiota within a honey bee population over time. Therefore, the aim of the present study was to characterize the composition of the midgut/pyloric microbiota of a honey bee apiary throughout a season. The rationale for investigating the midgut/pyloric microbiota is its dynamic nature. Monthly sampling of a demographic homogenous population of bees was performed between May and October, with concordant recording of the honey bee diet. Mixed Sanger-and Illumina 16S rRNA gene sequencing in combination with a quantitative PCR analysis were used to determine the bacterial composition. A marked increase in α-diversity was detected between May and June. Furthermore, we found that four distinct phylotypes belonging to the Proteobacteria dominated the microbiota, and these displayed major shifts throughout the season. Gilliamella apicola dominated the composition early on, and Snodgrassella alvi began to dominate when the other bacteria declined to an absolute low in October. In vitro co-culturing revealed that G. apicola suppressed S. alvi. No shift was detected in the composition of the microbiota under stable environment/dietary conditions between November and February. Therefore, environmental/dietary changes may trigger the shifts observed in the honey bee midgut/pyloric microbiota throughout a season.

  11. Slow Conductances Could Underlie Intrinsic Phase-Maintaining Properties of Isolated Lobster (Panulirus interruptus) Pyloric Neurons

    PubMed Central

    Hooper, Scott L.; Buchman, Einat; Weaver, Adam L.; Thuma, Jeffrey B.; Hobbs, Kevin H.

    2009-01-01

    The rhythmic pyloric network of the lobster stomatogastric system approximately maintains phase (that is, the burst durations and durations between the bursts of its neurons change proportionally) when network cycle period is altered by current injection into the network pacemaker (Hooper, 1997a,b). When isolated from the network and driven by rhythmic hyperpolarizing current pulses, the delay to firing after each pulse of at least one network neuron type (Pyloric, PY) varies in a phase-maintaining manner when cycle period is varied (Hooper, 1998). These variations require PY neurons to have intrinsic mechanisms that respond to changes in neuron activity on time scales at least as long as two seconds. Slowly activating and deactivating conductances could provide such a mechanism. We tested this possibility by building models containing various slow conductances. This work showed that such conductances could indeed support intrinsic phase-maintenance and we show here results for one such conductance, a slow potassium conductance. These conductances supported phase maintenance because their mean activation level changed, hence altering neuron post-inhibition firing delay, when the rhythmic input to the neuron changed. Switching the sign of the dependence of slow conductance activation and deactivation on membrane potential resulted in neuron delays switching to change in an anti-phase maintaining manner. These data suggest that slow conductances or similar slow processes such as changes in intracellular Ca2+ concentration could underlie phase maintenance in pyloric network neurons. PMID:19211890

  12. Shifts in the Midgut/Pyloric Microbiota Composition within a Honey Bee Apiary throughout a Season

    PubMed Central

    Ludvigsen, Jane; Rangberg, Anbjørg; Avershina, Ekaterina; Sekelja, Monika; Kreibich, Claus; Amdam, Gro; Rudi, Knut

    2015-01-01

    Honey bees (Apis mellifera) are prominent crop pollinators and are, thus, important for effective food production. The honey bee gut microbiota is mainly host specific, with only a few species being shared with other insects. It currently remains unclear how environmental/dietary conditions affect the microbiota within a honey bee population over time. Therefore, the aim of the present study was to characterize the composition of the midgut/pyloric microbiota of a honey bee apiary throughout a season. The rationale for investigating the midgut/pyloric microbiota is its dynamic nature. Monthly sampling of a demographic homogenous population of bees was performed between May and October, with concordant recording of the honey bee diet. Mixed Sanger-and Illumina 16S rRNA gene sequencing in combination with a quantitative PCR analysis were used to determine the bacterial composition. A marked increase in α-diversity was detected between May and June. Furthermore, we found that four distinct phylotypes belonging to the Proteobacteria dominated the microbiota, and these displayed major shifts throughout the season. Gilliamella apicola dominated the composition early on, and Snodgrassella alvi began to dominate when the other bacteria declined to an absolute low in October. In vitro co-culturing revealed that G. apicola suppressed S. alvi. No shift was detected in the composition of the microbiota under stable environment/dietary conditions between November and February. Therefore, environmental/dietary changes may trigger the shifts observed in the honey bee midgut/pyloric microbiota throughout a season. PMID:26330094

  13. Hypertrophic pachymeningitis accompanying neuromyelitis optica spectrum disorder: A case report.

    PubMed

    Kon, Tomoya; Nishijima, Haruo; Haga, Rie; Funamizu, Yukihisa; Ueno, Tatsuya; Arai, Akira; Suzuki, Chieko; Nunomura, Jin-ichi; Baba, Masayuki; Takahashi, Toshiyuki; Tomiyama, Masahiko

    2015-10-15

    We report a case of idiopathic cerebral hypertrophic pachymeningitis accompanying neuromyelitis optica spectrum disorder. No other identifiable cause of pachymeningitis was detected. Corticosteroid therapy was effective for both diseases. Hypertrophic pachymeningitis is closely related to autoimmune inflammatory disease of the central nervous system. This case supports the hypothesis that hypertrophic pachymeningitis can be a rare comorbidity of neuromyelitis optica spectrum disorder.

  14. Infective endocarditis in hypertrophic cardiomyopathy

    PubMed Central

    Dominguez, Fernando; Ramos, Antonio; Bouza, Emilio; Muñoz, Patricia; Valerio, Maricela C.; Fariñas, M. Carmen; de Berrazueta, José Ramón; Zarauza, Jesús; Pericás Pulido, Juan Manuel; Paré, Juan Carlos; de Alarcón, Arístides; Sousa, Dolores; Rodriguez Bailón, Isabel; Montejo-Baranda, Miguel; Noureddine, Mariam; García Vázquez, Elisa; Garcia-Pavia, Pablo

    2016-01-01

    Abstract Infective endocarditis (IE) complicating hypertrophic cardiomyopathy (HCM) is a poorly known entity. Although current guidelines do not recommend IE antibiotic prophylaxis (IEAP) in HCM, controversy remains. This study sought to describe the clinical course of a large series of IE HCM and to compare IE in HCM patients with IE patients with and without an indication for IEAP. Data from the GAMES IE registry involving 27 Spanish hospitals were analyzed. From January 2008 to December 2013, 2000 consecutive IE patients were prospectively included in the registry. Eleven IE HCM additional cases from before 2008 were also studied. Clinical, microbiological, and echocardiographic characteristics were analyzed in IE HCM patients (n = 34) and in IE HCM reported in literature (n = 84). Patients with nondevice IE (n = 1807) were classified into 3 groups: group 1, HCM with native-valve IE (n = 26); group 2, patients with IEAP indication (n = 696); group 3, patients with no IEAP indication (n = 1085). IE episode and 1-year follow-up data were gathered. One-year mortality in IE HCM was 42% in our study and 22% in the literature. IE was more frequent, although not exclusive, in obstructive HCM (59% and 74%, respectively). Group 1 exhibited more IE predisposing factors than groups 2 and 3 (62% vs 40% vs 50%, P < 0.01), and more previous dental procedures (23% vs 6% vs 8%, P < 0.01). Furthermore, Group 1 experienced a higher incidence of Streptococcus infections than Group 2 (39% vs 22%, P < 0.01) and similar to Group 3 (39% vs 30%, P = 0.34). Overall mortality was similar among groups (42% vs 36% vs 35%, P = 0.64). IE occurs in HCM patients with and without obstruction. Mortality of IE HCM is high but similar to patients with and without IEAP indication. Predisposing factors, previous dental procedures, and streptococcal infection are higher in IE HCM, suggesting that HCM patients could benefit from IEAP. PMID:27368014

  15. Aortic biomechanics in hypertrophic cardiomyopathy

    PubMed Central

    Badran, Hala Mahfouz; Soltan, Ghada; Faheem, Nagla; Elnoamany, Mohamed Fahmy; Tawfik, Mohamed; Yacoub, Magdi

    2015-01-01

    Background: Ventricular-vascular coupling is an important phenomenon in many cardiovascular diseases. The association between aortic mechanical dysfunction and left ventricular (LV) dysfunction is well characterized in many disease entities, but no data are available on how these changes are related in hypertrophic cardiomyopathy (HCM). Aim of the work: This study examined whether HCM alone is associated with an impaired aortic mechanical function in patients without cardiovascular risk factors and the relation of these changes, if any, to LV deformation and cardiac phenotype. Methods: 141 patients with HCM were recruited and compared to 66 age- and sex-matched healthy subjects as control group. Pulse pressure, aortic strain, stiffness and distensibility were calculated from the aortic diameters measured by M-mode echocardiography and blood pressure obtained by sphygmomanometer. Aortic wall systolic and diastolic velocities were measured using pulsed wave Doppler tissue imaging (DTI). Cardiac assessment included geometric parameters and myocardial deformation (strain and strain rate) and mechanical dyssynchrony. Results: The pulsatile change in the aortic diameter, distensibility and aortic wall systolic velocity (AWS') were significantly decreased and aortic stiffness index was increased in HCM compared to control (P < .001) In HCM AWS' was inversely correlated to age(r = − .32, P < .0001), MWT (r = − .22, P < .008), LVMI (r = − .20, P < .02), E/Ea (r = − .16, P < .03) LVOT gradient (r = − 19, P < .02) and severity of mitral regurg (r = − .18, P < .03) but not to the concealed LV deformation abnormalities or mechanical dyssynchrony. On multivariate analysis, the key determinant of aortic stiffness was LV mass index and LVOT obstruction while the role LV dysfunction in aortic stiffness is not evident in this population. Conclusion: HCM is associated with abnormal aortic mechanical properties. The severity of cardiac

  16. Hypertrophic Cardiomyopathy in Athletes: Catching a Killer.

    ERIC Educational Resources Information Center

    Maron, Barry J.

    1993-01-01

    A leading cause of sudden death among young athletes, hypertrophic cardiomyopathy (HCM) does not always present cardiac signs and symptoms. Echocardiography offers the most effective means for diagnosis. Some patients require pharmaceutical or surgical intervention. Patients with HCM should not engage in organized competitive sports or…

  17. Clinical significance of pyloric aperture in the aetiology of peptic ulcer disease: a prospective study.

    PubMed

    Saha, Sisir Kumar

    2009-04-01

    Despite so much contributions reported in the literature, the aetiology of the duodenal ulcer remains an enigmatic subject to the medical profession. Findings of Helicobacter pylori seem to have overshadowed the real issue, in that, how a small area of the duodenal mucosa could be inflicted with the acid-pepsin injury has not been questioned? One hundred and sixty-eight consecutive patients, presented with epigastric pain were included in the endoscopic study. The aim of the study was to find out the prevalence and its clinical importance on the sizes of the pyloric aperture in the aetiology of peptic ulcer disease. Demographic data on the sizes of the pyloric aperture were divided into two groups, in that, those up to 3 mm in diameter were included in one and those over the size of 3 mm in another. Among the 168 cases, the gastric ulcer was found in 12 and duodenal ulcer in 27 patients. The sex ratio of men to women was 1.4:1 found in the former and 8:1 in the latter. Among other findings, a knuckle of duodenal mucoa was noticed prolapsing through the large pyloric aperture. It could be postulated that a knuckle of the mucosa that keeps peeping through the pylorus acts as a mucosal plug in empty stomach, like a cork in the acid bottle. The main physiological function is to protect the mucosa from being damaged by the acid-pepsin injury or by the reflux of bile, but the tip of the plug seems to be subjected to such injury. Furthermore, the surface epithelial cells could also be subjected to ischaemic change while prolapsing through the pylorus. This may lead to reduced production of the mucosal gel and bicarbonate secretion, thus exposing the damaged mucosa to acid bath. This supports the concept, how a small area of the stomach or duodenum could be inflicted with ulceration.

  18. Scar contractures, hypertrophic scars, and keloids.

    PubMed

    Brissett, A E; Sherris, D A

    2001-11-01

    A scar contracture is the result of a contractile wound-healing process occurring in a scar that has already been reepithelialized and adequately healed. Keloids and hypertrophic scars (HTSs) are fibrous tissue outgrowths that result from a derailment in the normal wound-healing process. The exact incidence of keloids and HTSs remains unknown. Beyond the common belief that trauma is the initiating event of keloid and hypertrophic scar formation, the remainder of the process remains uncertain. A combination of biochemical factors, skin tension, endocrinologic factors, and genetic factors are the likely culprits. Treatment begins by educating the patient about the etiology of the scarring process. All treatment protocols are individualized, but the standard approach to keloids and HTSs begins with corticosteroid injection followed by surgical excision, pressure dressings, and long-term follow-up.

  19. Calcification of in vitro developed hypertrophic cartilage

    SciTech Connect

    Tacchetti, C.; Quarto, R.; Campanile, G.; Cancedda, R.

    1989-04-01

    We have recently reported that dedifferentiated cells derived from stage 28-30 chick embryo tibiae, when transferred in suspension culture in the presence of ascorbic acid, develop in a tissue closely resembling hypertrophic cartilage. Ultrastructural examination of this in vitro formed cartilage showed numerous matrix vesicles associated with the extracellular matrix. In the present article we report that the in vitro developed hypertrophic cartilage undergoes calcification. We indicate a correlation between the levels of alkaline phosphatase activity and calcium deposition at different times of development. Following the transfer of cells into suspension culture and an initial lag phase, the level of alkaline phosphatase activity rapidly increased. In most experiments the maximum of activity was reached after 5 days of culture. When alkaline phosphatase activity and /sup 45/Ca deposition were measured in the same experiment, we observed that the increase in alkaline phosphatase preceded the deposition of nonwashable calcium deposits in the cartilage.

  20. An unusual ST-segment elevation: apical hypertrophic cardiomyopathy shows the ace up its sleeve.

    PubMed

    de Santis, Francesco; Pergolini, Amedeo; Zampi, Giordano; Pero, Gaetano; Pino, Paolo Giuseppe; Minardi, Giovanni

    2013-01-01

    Apical hypertrophic cardiomyopathy is part of the broad clinical and morphologic spectrum of hypertrophic cardiomyopathy. We report a patient with electrocardiographic abnormalities in whom acute coronary syndrome was excluded and apical hypertrophic cardiomyopathy was demonstrated by careful differential diagnosis.

  1. Molecular cytogenetic characterisation of partial trisomy 9q in a case with pyloric stenosis and a review

    PubMed Central

    Heller, A.; Seidel, J; Hubler, A; Starke, H; Beensen, V; Senger, G; Rocchi, M; Wirth, J; Chudoba, I; Claussen, U; Liehr, T

    2000-01-01

    Partial trisomy 9q represents a rare and heterogeneous group of chromosomal aberrations characterised by various clinical features including pyloric stenosis. Here, we describe the case of a 1 year old female patient with different dysmorphic features including pyloric stenosis and prenatally detected partial trisomy 9q. This partial trisomy 9q has been analysed in detail to determine the size of the duplication and to characterise the chromosomal breakpoints. According to the data gained by different molecular cytogenetic techniques, such as fluorescence in situ hybridisation (FISH) with whole and partial chromosome painting probes, yeast artificial chromosome (YAC) probes, and comparative genomic hybridisation (CGH), the derivative chromosome 9 can be described as dup(9)(pter→q22.1::q31.1→q22.1::q31.1→ q22.1::q31.1→qter). Four breakpoint spanning YACs have been identified (y806f02, y906g6, y945f5, and y747b3) for the proximal breakpoint. According to this new case and previously published data, the recently postulated putative critical region for pyloric stenosis can be narrowed down to the subbands 9q22.1-q31.1 and is the result of either partial trisomy of gene(s) located in this region or a gene disrupted in 9q31.


Keywords: partial trisomy 9q; pyloric stenosis; FISH; CGH PMID:10882757

  2. Pyloric stenosis

    MedlinePlus

    ... skin and mouth, less tearing when crying, and dry diapers Swollen belly Olive-shaped mass when feeling the upper belly, which is the abnormal pylorus Ultrasound of the abdomen may be the first imaging test. Other tests that may be done include: Barium ...

  3. Inflammation and cutaneous nervous system involvement in hypertrophic scarring

    PubMed Central

    Li, Shao-hua; Yang, Heng-lian; Xiao, Hu; Wang, Yi-bing; Wang, De-chang; Huo, Ran

    2015-01-01

    This study aimed to use a mouse model of hypertrophic scarring by mechanical loading on the dorsum of mice to determine whether the nervous system of the skin and inflammation participates in hypertrophic scarring. Results of hematoxylin-eosin and immunohistochemical staining demonstrated that inflammation contributed to the formation of a hypertrophic scar and increased the nerve density in scar tissue.Western blot assay verified that interleukin-13 expression was increased in scar tissue. These findings suggest that inflammation and the cutaneous nervous system play a role in hypertrophic scar formation. PMID:26692869

  4. Pathogenesis of infantile haemangioma.

    PubMed

    Greenberger, S; Bischoff, J

    2013-07-01

    Haemangioma is a vascular tumour of infancy that is well known for its rapid growth during the first weeks to months of a child's life, followed by a spontaneous but slow involution. During the proliferative phase, the vessels are disorganized and composed of immature endothelial cells. When the tumour involutes, the vessels mature and enlarge but are reduced in number. Fat, fibroblasts and connective tissue replace the vascular tissue, with few, large, feeding and draining vessels evident. Both angiogenesis and vasculogenesis have been proposed as mechanisms contributing to the neovascularization in haemangioma tumours. In recent years, several of the 'building blocks', the cells comprising the haemangioma, have been isolated. Among them are haemangioma progenitor/stem cells, endothelial cells and pericytes. This review focuses on these cell types, and the molecular pathways within these cells that have been implicated in driving the pathogenesis of infantile haemangioma.

  5. Temperature Sensitivity of the Pyloric Neuromuscular System and Its Modulation by Dopamine

    PubMed Central

    Thuma, Jeffrey B.; Hobbs, Kevin H.; Burstein, Helaine J.; Seiter, Natasha S.; Hooper, Scott L.

    2013-01-01

    We report here the effects of temperature on the p1 neuromuscular system of the stomatogastric system of the lobster (Panulirus interruptus). Muscle force generation, in response to both the spontaneously rhythmic in vitro pyloric network neural activity and direct, controlled motor nerve stimulation, dramatically decreased as temperature increased, sufficiently that stomach movements would very unlikely be maintained at warm temperatures. However, animals fed in warm tanks showed statistically identical food digestion to those in cold tanks. Applying dopamine, a circulating hormone in crustacea, increased muscle force production at all temperatures and abolished neuromuscular system temperature dependence. Modulation may thus exist not only to increase the diversity of produced behaviors, but also to maintain individual behaviors when environmental conditions (such as temperature) vary. PMID:23840789

  6. [Clinical and therapeutical considerations regarding a rare case of pre-pyloric stenosis].

    PubMed

    Sabetay, C; Zavate, A; Ciuca, M; Ciobanu, O; Malos, A

    2009-01-01

    The neonatal obstacle caused by a pre-pyloric diaphragm represent a rare cause of high oclusion in new-born. We present the case of a 6 days old new-born admitted in our department for nonbilious vomiting and feeding intolerance in which the clinical exam and the imagistic explorations (plain and contrast abdominal X-Rays, and ultrasound) could not reveal an evident cause for the oclusion. The surgical intervention imposed by the simptoms revealed the existece of a complete diaphragm in the prepyloric region. The initial excision of the diaphragm was not sufficient, the patient undergoing a second surgical intervention of gastrojejunal anastromosis with favorable evolution this time. The authors are presenting diagnosis and theraputical management peculiarities of this rare condition.

  7. Characterization of ionic currents of circular smooth muscle cells of the canine pyloric sphincter.

    PubMed

    Vogalis, F; Sanders, K M

    1991-05-01

    1. The ionic currents of circular muscle cells from canine pyloric sphincter were characterized using the whole-cell patch clamp technique. 2. Subpopulations of circular muscle cells from the myenteric and submucosal halves of the circular layer were isolated and studied separately to determine whether differences in the currents expressed by these cells could explain differences in electrical behaviour observed in situ. 3. Resting potentials of isolated cells were about 20 mV positive to cells in intact muscles. Polarization under current clamp to the level of tissue resting potentials caused spontaneous discharge of action potentials in many cells. 4. Outward current measured under voltage clamp could be divided into a voltage-dependent component and a voltage- and Ca(2+)-dependent component. The latter was affected by manipulations of external [Ca2+], nifedipine and dialysis of cells with EGTA. 5. A few cells exhibited a channel that was activated with hyperpolarization. These channels produced inward current at potentials positive to the potassium reversal potential, EK, and reversed at -13 mV. 6. Inward currents, recorded from Cs(+)-loaded cells, were characterized by a transient phase and a sustained phase that persisted throughout the test depolarization. The inward current was reduced by nifedipine but in some cells a nifedipine-resistant component was observed. 7. There were no fundamental differences in the ionic currents recorded from circular muscle cells from the myenteric and submucosal regions, suggesting that the electrical activity of the tissue must be dependent upon structural characteristics (i.e. electrical coupling, fibre bundle dimensions, etc.) of the tissue. 8. The ionic conductance characterized can be related to many of the excitable events recorded from pyloric muscles.

  8. Genetics Home Reference: infantile systemic hyalinosis

    MedlinePlus

    ... Facebook Share on Twitter Your Guide to Understanding Genetic Conditions Search MENU Toggle navigation Home Page Search ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions infantile systemic hyalinosis infantile systemic ...

  9. Myocardial Fibrosis as an Early Manifestation of Hypertrophic Cardiomyopathy

    PubMed Central

    Ho, Carolyn Y.; López, Begoña; Coelho-Filho, Otavio R.; Lakdawala, Neal K.; Cirino, Allison L.; Jarolim, Petr; Kwong, Raymond; González, Arantxa; Colan, Steven D.; Seidman, J.G.; Díez, Javier; Seidman, Christine E.

    2011-01-01

    BACKGROUND Myocardial fibrosis is a hallmark of hypertrophic cardiomyopathy and a proposed substrate for arrhythmias and heart failure. In animal models, profibrotic genetic pathways are activated early, before hypertrophic remodeling. Data showing early profibrotic responses to sarcomere-gene mutations in patients with hypertrophic cardiomyopathy are lacking. METHODS We used echocardiography, cardiac magnetic resonance imaging (MRI), and serum biomarkers of collagen metabolism, hemodynamic stress, and myocardial injury to evaluate subjects with hypertrophic cardiomyopathy and a confirmed genotype. RESULTS The study involved 38 subjects with pathogenic sarcomere mutations and overt hypertrophic cardiomyopathy, 39 subjects with mutations but no left ventricular hypertrophy, and 30 controls who did not have mutations. Levels of serum C-terminal propeptide of type I procollagen (PICP) were significantly higher in mutation carriers without left ventricular hypertrophy and in subjects with overt hypertrophic cardiomyopathy than in controls (31% and 69% higher, respectively; P<0.001). The ratio of PICP to C-terminal telopeptide of type I collagen was increased only in subjects with overt hypertrophic cardiomyopathy, suggesting that collagen synthesis exceeds degradation. Cardiac MRI studies showed late gadolinium enhancement, indicating myocardial fibrosis, in 71% of subjects with overt hypertrophic cardiomyopathy but in none of the mutation carriers without left ventricular hypertrophy. CONCLUSIONS Elevated levels of serum PICP indicated increased myocardial collagen synthesis in sarcomere-mutation carriers without overt disease. This profibrotic state preceded the development of left ventricular hypertrophy or fibrosis visible on MRI. (Funded by the National Institutes of Health and others.) PMID:20818890

  10. Periostin induces fibroblast proliferation and myofibroblast persistence in hypertrophic scarring.

    PubMed

    Crawford, Justin; Nygard, Karen; Gan, Bing Siang; O'Gorman, David Brian

    2015-02-01

    Hypertrophic scarring is characterized by the excessive development and persistence of myofibroblasts. These cells contract the surrounding extracellular matrix resulting in the increased tissue density characteristic of scar tissue. Periostin is a matricellular protein that is abnormally abundant in fibrotic dermis, however, its roles in hypertrophic scarring are largely unknown. In this report, we assessed the ability of matrix-associated periostin to promote the proliferation and myofibroblast differentiation of dermal fibroblasts isolated from the dermis of hypertrophic scars or healthy skin. Supplementation of a thin type-I collagen cell culture substrate with recombinant periostin induced a significant increase in the proliferation of hypertrophic scar fibroblasts but not normal dermal fibroblasts. Periostin induced significant increases in supermature focal adhesion formation, α smooth muscle actin levels and collagen contraction in fibroblasts cultured from hypertrophic scars under conditions of increased matrix tension in three-dimensional type-I collagen lattices. Inhibition of Rho-associated protein kinase activity significantly attenuated the effects of matrix-associated periostin on hypertrophic scar fibroblasts and myofibroblasts. Depletion of endogenous periostin expression in hypertrophic scar myofibroblasts resulted in a sustained decrease in α smooth muscle actin levels under conditions of reducing matrix tension, while matrix-associated periostin levels caused the cells to retain high levels of a smooth muscle actin under these conditions. These findings indicate that periostin promotes Rho-associated protein kinase-dependent proliferation and myofibroblast persistence of hypertrophic scar fibroblasts and implicate periostin as a potential therapeutic target to enhance the resolution of scars.

  11. Diagnosis and management of hypertrophic cardiomyopathy

    PubMed Central

    Vischer, Annina S; Perez-Tome, Maria Carrillo; Castelletti, Silvia

    2015-01-01

    The clinical spectrum of hypertrophic cardiomyopathy (HCM) is complex and includes a variety of phenotypes, which leads to different types of manifestations. Although most of the patients are asymptomatic, a significant proportion of them will develop symptoms or risk of arrhythmias and sudden cardiac death (SCD). Therefore, the objectives of HCM diagnosis and management are to relieve the patients' symptoms (chest pain, heart failure, syncope, palpitations, etc.), prevent disease progression and major cardiovascular complications and SCD. The heterogeneity of HCM patterns, their symptoms and assessment is a challenge for the cardiologist. PMID:26693331

  12. Blepharoptosis and hypertrophic osteoarthropathy: A case report

    PubMed Central

    Doğan, Aysun Şanal; Acaroğlu, Gölge; Dikmetas, Ozlem

    2016-01-01

    A 52-year-old male patient presented to our hospital with a history of secondary hypertrophic osteoarthropathy (HOA) associated with an abdominal neoplasia and blepharoptosis. He had finger clubbing, hyperhidrosis, and hypertrichosis. He also had a recent history of extensive abdominal surgery with a pathology report of myelolipoma. Routine blood work was unremarkable. Upper eyelid reconstruction with blepharoplasty, upper eyelid wedge resection, and brow suspension was performed to address his eyelid concerns. By this case report, we would like to attract notice that the eyelid involvement may be a part of HOA and to emphasize the importance of systemic and pathologic evaluation in failed blepharoptosis surgery. PMID:27221686

  13. Screening for hypertrophic cardiomyopathy in cats.

    PubMed

    Häggström, Jens; Luis Fuentes, Virginia; Wess, Gerhard

    2015-12-01

    Hypertrophic cardiomyopathy (HCM) is the most common heart disease in cats, and it can lead to increased morbidity and mortality. Cats are often screened for HCM because of the presence of a heart murmur, but screening for breeding purposes has also become common. These cats are usually purebred cats of breeding age, and generally do not present with severe disease or with any clinical signs. This type of screening is particularly challenging because mild disease may be difficult to differentiate from a normal phenotype, and the margin for error is small, with potentially major consequences for the breeder. This article reviews HCM screening methods, with particular emphasis on echocardiography.

  14. Hypertrophic cardiomyopathy simulating an infiltrative myocardial disease.

    PubMed Central

    Frustaci, A; Loperfido, F; Pennestrì, F

    1985-01-01

    Congestive heart failure developed in a patient with low electrocardiographic QRS voltages, diffuse thickening of the septum and free cardiac wall, and a reduction in left ventricular internal diameter, which suggested an infiltrative heart muscle disease. Histological examination at necropsy showed hypertrophic cardiomyopathy with symmetrical left ventricular hypertrophy. Myocardial disarray of type 1A disorganisation was extensive and equally distributed in the ventricular septum and the left anterior and left posterior ventricular free walls. Severe fibrosis (40%) was also present and may have been a possible cause of the electrocardiographic abnormalities as well as of the lack of ventricular dilatation. Images PMID:4041302

  15. Hypertrophic Cardiomyopathy in Owl Monkeys (Aotus spp.)

    PubMed Central

    Knowlen, Grant G; Weller, Richard E; Perry, Ruby L; Baer, Janet F; Gozalo, Alfonso S

    2013-01-01

    Cardiac hypertrophy is a common postmortem finding in owl monkeys. In most cases the animals do not exhibit clinical signs until the disease is advanced, making antemortem diagnosis of subclinical disease difficult and treatment unrewarding. We obtained echocardiograms, electrocardiograms, and thoracic radiographs from members of a colony of owl monkeys that previously was identified as showing a 40% incidence of gross myocardial hypertrophy at necropsy, to assess the usefulness of these modalities for antemortem diagnosis. No single modality was sufficiently sensitive and specific to detect all monkeys with cardiac hypertrophy. Electrocardiography was the least sensitive method for detecting owl monkeys with hypertrophic cardiomyopathy. Thoracic radiographs were more sensitive than was electrocardiography in this context but cannot detect animals with concentric hypertrophy without an enlarged cardiac silhouette. Echocardiography was the most sensitive method for identifying cardiac hypertrophy in owl monkeys. The most useful parameters suggestive of left ventricular hypertrophy in our owl monkeys were an increased average left ventricular wall thickness to chamber radius ratio and an increased calculated left ventricular myocardial mass. Parameters suggestive of dilative cardiomyopathy were an increased average left ventricular myocardial mass and a decreased average ratio of left ventricular free wall thickness to left ventricular chamber radius. When all 4 noninvasive diagnostic modalities (physical examination, echocardiography, electrocardiography, and thoracic radiography) were used concurrently, the probability of detecting hypertrophic cardiomyopathy in owl monkeys was increased greatly. PMID:23759531

  16. Hypertrophic cardiomyopathy in owl monkeys (Aotus spp.).

    PubMed

    Knowlen, Grant G; Weller, Richard E; Perry, Ruby L; Baer, Janet F; Gozalo, Alfonso S

    2013-06-01

    Cardiac hypertrophy is a common postmortem finding in owl monkeys. In most cases the animals do not exhibit clinical signs until the disease is advanced, making antemortem diagnosis of subclinical disease difficult and treatment unrewarding. We obtained echocardiograms, electrocardiograms, and thoracic radiographs from members of a colony of owl monkeys that previously was identified as showing a 40% incidence of gross myocardial hypertrophy at necropsy, to assess the usefulness of these modalities for antemortem diagnosis. No single modality was sufficiently sensitive and specific to detect all monkeys with cardiac hypertrophy. Electrocardiography was the least sensitive method for detecting owl monkeys with hypertrophic cardiomyopathy. Thoracic radiographs were more sensitive than was electrocardiography in this context but cannot detect animals with concentric hypertrophy without an enlarged cardiac silhouette. Echocardiography was the most sensitive method for identifying cardiac hypertrophy in owl monkeys. The most useful parameters suggestive of left ventricular hypertrophy in our owl monkeys were an increased average left ventricular wall thickness to chamber radius ratio and an increased calculated left ventricular myocardial mass. Parameters suggestive of dilative cardiomyopathy were an increased average left ventricular myocardial mass and a decreased average ratio of left ventricular free wall thickness to left ventricular chamber radius. When all 4 noninvasive diagnostic modalities (physical examination, echocardiography, electrocardiography, and thoracic radiography) were used concurrently, the probability of detecting hypertrophic cardiomyopathy in owl monkeys was increased greatly.

  17. Helicobacter pylori-negative gastric cancer: advanced-stage undifferentiated adenocarcinoma located in the pyloric gland area.

    PubMed

    Okano, Akihiro; Kato, Shigeru; Ohana, Masaya

    2017-02-01

    The incidence of Helicobacter pylori-negative gastric cancer (HpNGC) is extremely low. A 78-year old female without H. pylori infection was diagnosed with type 4 advanced-stage gastric prepylorus cancer. Distal gastrectomy was performed as for HpNGC (cT3N0M0). Histological findings of the resected specimen showed poorly differentiated adenocarcinoma and signet ring cell carcinoma, which were located in the pyloric gland area, diffusely invaded beyond the serosa without lymph node metastasis (pT4aN0M0). Most cases of undifferentiated-type HpNGC are diagnosed in the early stage and are located in the fundic gland area. We report the first case of advanced-stage undifferentiated HpNGC located in the pyloric gland area.

  18. Infantile amnesia: a neurogenic hypothesis.

    PubMed

    Josselyn, Sheena A; Frankland, Paul W

    2012-08-16

    In the late 19th Century, Sigmund Freud described the phenomenon in which people are unable to recall events from early childhood as infantile amnesia. Although universally observed, infantile amnesia is a paradox; adults have surprisingly few memories of early childhood despite the seemingly exuberant learning capacity of young children. How can these findings be reconciled? The mechanisms underlying this form of amnesia are the subject of much debate. Psychological/cognitive theories assert that the ability to maintain detailed, declarative-like memories in the long term correlates with the development of language, theory of mind, and/or sense of "self." However, the finding that experimental animals also show infantile amnesia suggests that this phenomenon cannot be explained fully in purely human terms. Biological explanations of infantile amnesia suggest that protracted postnatal development of key brain regions important for memory interferes with stable long-term memory storage, yet they do not clearly specify which particular aspects of brain maturation are causally related to infantile amnesia. Here, we propose a hypothesis of infantile amnesia that focuses on one specific aspect of postnatal brain development--the continued addition of new neurons to the hippocampus. Infants (humans, nonhuman primates, and rodents) exhibit high levels of hippocampal neurogenesis and an inability to form lasting memories. Interestingly, the decline of postnatal neurogenesis levels corresponds to the emergence of the ability to form stable long-term memory. We propose that high neurogenesis levels negatively regulate the ability to form enduring memories, most likely by replacing synaptic connections in preexisting hippocampal memory circuits.

  19. Increased Expression of Pyloric ERβ Is Associated With Diabetic Gastroparesis in Streptozotocin-Induced Male Diabetic Rats

    PubMed Central

    Crimmins, Stephen; Smiley, Rebecca; Preston, Kerry; Yau, Amy; Mccallum, Richard; Ali, Mohammed Showkat

    2016-01-01

    Background Gastroparesis is a significant co-morbidity affecting up to 50% of patients with diabetes and is disproportionately found in women. Prior studies have suggested that loss of interstitial cells of Cajal, hyperglycemia, and nitric oxide dysfunction are potential causes of gastroparesis. Since diabetic gastroparesis affects more women than men, we performed an exploratory study with a diabetic rat model to determine if sex hormone signaling is altered in those where gastroparesis develops. Methods We injected male rats with streptozotocin (STZ) to model type I diabetes, as confirmed by blood glucose levels. Gastroparesis was determined by acetaminophen gavage and serum acetaminophen levels. Rats were grouped based on acetaminophen and blood glucose data: diabetic (DM), diabetic and gastroparetic (DM + GP), and control (CM). Serum levels of testosterone, estrogen, and insulin were determined as well as aromatase expression in pyloric tissue and serum. Androgen receptor and estrogen receptor α (ERα) and β (ERβ) were also measured in the pylorus. Results Compared to CM, estrogen increased and testosterone decreased in both DM and DM + GP rats. Sex hormone levels were not different between DM and DM + GP. Serum aromatase was increased in DM and DM + GP rats; however, pyloric tissue levels were not significantly different from controls. ERα was unchanged and androgen receptor decreased in DM and DM + GP. ERβ was increased only in DM + GP animals. Conclusion Our study implicates increased pyloric ERβ in the development of gastroparesis in STZ-induced male diabetic rats. Increased serum aromatase is likely responsible for altered sex hormone levels. Our study supports the implication of sex hormone signaling in diabetic development and demonstrates a potential unique role for pyloric ERβ in male diabetic gastroparesis. PMID:27785323

  20. Infantile Hemangioma: A Brief Review

    PubMed Central

    BOTA, MADALINA; POPA, GHEORGHE; BLAG, CRISTINA; TATARU, ALEXANDRU

    2015-01-01

    Infantile hemangiomas as frequent infancy tumors have been a controversial issue of medical scientists worldwide. Their clinical aspects are various and their physiopathology is yet to be fully understood. Numerous publications outline the characteristics, causes, evolution possibilities and therapeutic approaches. Deciding whether to treat or not is the main question of this kind of pathology. Hemangiomas that have complications or can cause irreversible damage need therapy. This is a brief review of up-to-date information regarding the presentation of infantile hemangiomas and target-therapies. PMID:26528043

  1. Modeling new therapies for infantile spasms

    PubMed Central

    Chudomelova, Lenka; Scantlebury, Morris H.; Raffo, Emmanuel; Coppola, Antonietta; Betancourth, David; Galanopoulou, Aristea S.

    2010-01-01

    Summary Infantile spasms are the classical seizure type of West syndrome. Infantile spasms often herald a dismal prognosis, due to the high probability to evolve into intractable forms of epilepsies with significant cognitive deficits, especially if not adequately treated. The current therapies, high doses of adrenocorticotropic hormone, steroids or the GABA transaminase inhibitor vigabatrin, are often toxic and may not always be effective. The need to identify new therapies for spasms has led to the generation of a number of rodent models of infantile spasms. These include acute and chronic models of infantile spasms, with cryptogenic or symptomatic origin, many of which are based on specific etiologies. In this review, we will summarize the clinical experience with treating infantile spasms, the main features of the new animal models of infantile spasms and discuss their utility in the preclinical development of new therapies for infantile spasms. PMID:20618396

  2. Biology of Infantile Hemangioma

    PubMed Central

    Itinteang, Tinte; Withers, Aaron H. J.; Davis, Paul F.; Tan, Swee T.

    2014-01-01

    Infantile hemangioma (IH), the most common tumor of infancy, is characterized by an initial proliferation during infancy followed by spontaneous involution over the next 5–10 years, often leaving a fibro-fatty residuum. IH is traditionally considered a tumor of the microvasculature. However, recent data show the critical role of stem cells in the biology of IH with emerging evidence suggesting an embryonic developmental anomaly due to aberrant proliferation and differentiation of a hemogenic endothelium with a neural crest phenotype that possesses the capacity for endothelial, hematopoietic, mesenchymal, and neuronal differentiation. Current evidence suggests a putative placental chorionic mesenchymal core cell embolic origin of IH during the first trimester. This review outlines the emerging role of stem cells and their interplay with the cytokine niche that promotes a post-natal environment conducive for vasculogenesis involving VEGFR-2 and its ligand VEGF-A and the IGF-2 ligand in promoting cellular proliferation, and the TRAIL-OPG anti-apoptotic pathway in preventing cellular apoptosis in IH. The discovery of the role of the renin–angiotensin system in the biology of IH provides a plausible explanation for the programed biologic behavior and the β-blocker-induced accelerated involution of this enigmatic condition. This crucially involves the vasoactive peptide, angiotensin II, that promotes cellular proliferation in IH predominantly via its action on the ATIIR2 isoform. The role of the RAS in the biology of IH is further supported by the effect of captopril, an ACE inhibitor, in inducing accelerated involution of IH. The discovery of the critical role of RAS in IH represents a novel and fascinating paradigm shift in the understanding of human development, IH, and other tumors in general. PMID:25593962

  3. Posterolateral hypertrophic cardiomyopathy: a rare, but clinically significant variant of hypertrophic cardiomyopathy.

    PubMed

    Seki, Atsuko; Perens, Gregory; Fishbein, Michael C

    2014-01-01

    Posterolateral hypertrophic cardiomyopathy (HCM) is a rare variant of HCM. Segmental HCM is seen in 12% of cases of HCM. Among the patterns of segmental HCM, posterolateral HCM is the least common type. Our case of an 18-year old male documents this unusual type of cardiomyopathy. In this form of HCM, left ventricular thickness and the extent of hypertrophy might be underestimated by 2-dimensional echocardiography. This case illustrates the echocardiographic and pathologic features of posterolateral HCM.

  4. [Infantile cortical hyperostosis: Case report].

    PubMed

    Rodríguez, Mónica; Martínez, Luz Elena; Cortés, José; de Uña, Armando; Vega, Valentina; Acosta, Mario

    Infantile Cortical Hyperostosis, or Caffey-Silverman disease, is a rare condition characterised by generalised bone proliferation mediated by an acute inflammatory process. Diagnosis can be made through clinical evaluation and X-ray studies. The course is generally self-limiting and prognosis is excellent.

  5. Mechanisms underlying burst generation of the pyloric muscle in the mantis shrimp, Squilla oratoria.

    PubMed

    Tazaki, K; Chiba, C

    1991-12-01

    The pyloric constrictor muscles of the stomach in Squilla can generate spikes by synaptic activation via the motor nerve from the stomatogastric ganglion. Spikes are followed by slow depolarizing afterpotentials (DAPs) which lead to sustained depolarization during a burst of spikes. 1. The frequency of rhythmic bursts induced by continuous depolarization is membrane voltage-dependent. A brief depolarizing or hyperpolarizing pulse can trigger or terminate bursts, respectively, in a threshold-dependent manner. 2. The conductance increases during the DAP response. The amplitude of DAP decreases by imposed depolarization, whereas it increases by hyperpolarization. DAPs from successive spikes sum to produce a sustained depolarizing potential capable of firing a burst. 3. The spike and DAP are reduced in amplitude by decreasing [Ca]o, enhanced by Sr2+ or Ba2+ substituted for Ca2+, and blocked by Co2+ or Mn2+. DAPs are selectively blocked by Ni2+, and the spike is followed by a hyperpolarizing afterpotential. 4. The spike and DAP are prolonged by intracellular injection of the Ca2+ chelator EGTA. A hyperpolarizing afterpotential is abolished by EGTA and enhanced by increasing [Ca]o. The DAP is diminished in Na(+)-free saline and reduced by tetrodotoxin. 5. It is concluded that the muscle fiber is endowed with endogenous oscillatory properties and that the oscillatory membrane events result from changes of a voltage- and time-dependent conductance to Ca2+ and Na+ and a Ca2+ activated conductance to K+.

  6. Quantifying Lgr5-positive stem cell behaviour in the pyloric epithelium

    PubMed Central

    Leushacke, Marc; Barker, Nick; Pin, Carmen

    2016-01-01

    Using in-vivo lineage tracing data we quantified clonal expansion as well as proliferation and differentiation of the Lgr5-positive stem cell population in pyloric gastric glands. Fitting clone expansion models, we estimated that there are five effective Lgr5-positive cells able to give rise to monoclonal glands by replacing each other following a pattern of neutral drift dynamics. This analysis is instrumental to assess stem cell performance; however, stem cell proliferation is not quantified by clone expansion analysis. We identified a suitable mathematical model to quantify proliferation and differentiation of the Lgr5-positive population. As expected for populations in steady-state, the proliferation rate of the Lgr5-positive population was equal to its rate of differentiation. This rate was significantly faster than the rate at which effective cells are replaced, estimated by modelling clone expansion/contraction. This suggests that the majority of Lgr5-positive cell divisions serve to renew epithelial cells and only few result in the effective replacement of a neighbour to effect expansion to the entire gland. The application of the model under altered situations with uncoupled differentiation and proliferation was demonstrated. This methodology represents a valuable tool for quantifying stem cell performance in homeostasis and importantly for deciphering altered stem cell behaviour in disease. PMID:26916214

  7. Idiopathic hypertrophic spinal pachymeningitis: a case report.

    PubMed Central

    Park, S. H.; Whang, C. J.; Sohn, M.; Oh, Y. C.; Lee, C. H.; Whang, Y. J.

    2001-01-01

    Idiopathic hypertrophic pachymeningitis (IHP) is a rare, chronic nonspecific and granulomatous inflammatory disorder of the dura with unknown etiology. The diagnosis can be established by open biopsy and exclusion of all other specific granulomatous and infectious diseases. We report a typical case of spinal IHP occurring in a long segment of cervical and thoracic dura from C6 to T8. The patient was 56-yr-old female, who had been suffered from pain on her upper back and both arms for 3 months and recent onset motor weakness of both legs. During the 9 months of follow-up period, she experienced the improvement of her neurologic symptoms with combined therapy of partial excision and corticosteroid medication. Since early surgical intervention and subsequent pulse steroid therapy are mandatory for this disease to avoid irreversible damage of nervous system, the identification of this unique disease entity is essential on frozen diagnosis. A few cases have been reported in Korean literature. PMID:11641545

  8. [Hypertrophic miocardiopathy. An historical and anatomopathological review].

    PubMed

    Márquez, Manlio F; Ruíz-Siller, Teresita de Jesús; Méndez-Ramos, Rosario; Karabut, Erick; Aranda-Fraustro, Alberto; Jiménez-Becerra, Silvia

    Hypertrophic cardiomyopathy (HCM) is characterized by the presence of an abnormal hypertrophy of the left ventricle (LV), without dilation, and in the absence of any condition or another cardiac or systemic disease capable of inducing such hypertrophy. This primary or idiopathic hypertrophy can occur with or without dynamic obstruction (induced by exercise) of the LV outflow tract, so in its natural history two fundamental aspects are highlighted: the production of symptoms by blocking the LV outflow tract and the occurrence of sudden cardiac death secondary to ventricular arrhythmias. This revision includes the work of different Iberoamerican investigators, who contributed in an important way to lay the groundwork of what we know nowadays as HCM. It also includes the main anatomopathological characteristics, from its initial description to the new perspective we have concerning the myofiber disarray as the main histopathologic feature.

  9. Hypertrophic gastropathy with transient sessile polyps.

    PubMed

    Pesce, F; Barabino, A; Dufour, C; Caffarena, P E; Callea, F; Gatti, R

    1992-04-01

    We report an 8-year-old boy with hypertrophic gastropathy (HG) associated with duodenal Giardia lamblia infestation. The follow-up was complicated by the development of gastric polyps at the site of previous biopsies that spontaneously disappeared within 15 months. Despite the histological similarity, the different course between Ménétrier's disease (MD) in adults (chronic, with frequent development of sessile or pedunculate polyps) and HG (uncomplicated and usually spontaneously resolving) suggests a different pathogenesis. Viral (cytomegalovirus) and bacterial (Helicobacter pylori) infections have been described in association with HG and they could play an important pathogenetic role. The term HG better defines the childhood disease in which a conservative management is recommended.

  10. Cardiopulmonary Exercise Test in Hypertrophic Cardiomyopathy.

    PubMed

    Magri, Damiano; Santolamazza, Caterina

    2017-04-04

    Understanding the functional limitation in hypertrophic cardiomyopathy, the most common inherited heart disease, is challenging. Beside the occurrence of disease-related complications, several factors are potential determinants of exercise limitation, including left ventricular hypertrophy, myocardial fiber disarray, left ventricular outflow tract obstruction, microvascular ischemia, and interstitial fibrosis. Furthermore, drugs commonly used in the daily management of these patients may interfere with exercise capacity, especially those with a negative chronotropic effect. Cardiopulmonary exercise testing can safely and objectively evaluate the functional capacity of these patients and help the physician in understanding the mechanisms that underlie this limitation. Features that reduce exercise capacity may predict progression to heart failure in these patients and even the risk of sudden cardiac death.

  11. Incomplete Annular Pancreas with Ectopic Opening of the Pancreatic and Bile Ducts into the Pyloric Ring: First Report of a Rare Anomaly.

    PubMed

    Kobayashi, Shinjiro; Hoshino, Horoyuki; Segami, Kouhei; Koizumi, Satoshi; Ooike, Nobuyuki; Otsubo, Takehito

    2016-01-01

    The patient was a 56-year-old woman who had experienced epigastralgia and dorsal pain several times over the last 20 years. She was admitted for a diagnosis of acute cholecystitis, and severe intra- and extrahepatic bile duct dilatation with inner air density was noted. No papilla of Vater was present in the descending duodenum, and 2 small holes were present in the pyloric ring. Bile excretion from one of the small holes was observed under forward-viewing endoscope. It was considered that the pancreatic and bile ducts separately opened into the pyloric ring. Based on these findings, malformation of the pancreaticobiliary duct was diagnosed. She did not wish treatment, but the obstruction associated with duodenal stenosis was noted after 2 years. Pancreatoduodenectomy was performed as curative treatment for duodenal stenosis and retrograde biliary infection through the bile duct opening in the pyloric ring. The ventral pancreas encompassed almost the entire circumference of the pyloric ring, suggesting a subtype of annular pancreas. Generally, lesions are present in the descending part of the duodenum in an annular pancreas, and the pancreatic and bile ducts join in the papillary region. However, in this patient, (1) the pancreas encompassed the pyloric ring, (2) the pancreatic and bile ducts opened separately, and (3) the openings of the pancreatic and bile ducts were present in the pyloric ring. The pancreas and biliary tract develop through a complex process, which may cause various types of malformation of the pancreaticobiliary system, but no similar case report was found on a literature search. This case was very rare and could not be classified in any type of congenital anomaly of the pancreas. We would classify it as a subtype of annular pancreas with separate ectopic opening of the pancreatic and bile ducts into the pyloric ring.

  12. Septal Myectomy Surgery to Treat Obstructive Hypertrophic Cardiomyopathy (HCM)

    MedlinePlus

    Septal Myectomy Surgery to Treat Obstructive Hypertrophic Cardiomyopathy (HCM) Click Here to view the BroadcastMed, Inc. Privacy Policy and Legal Notice © 2017 BroadcastMed, Inc. All rights reserved.

  13. Hypertrophic cardiomyopathy and hyperthyroidism: a report of three cases

    PubMed Central

    Symons, C.; Richardson, P. J.; Feizi, O.

    1974-01-01

    Symons, C., Richardson, P. J., and Feizi, O. (1974).Thorax, 29, 713-719. Hypertrophic cardiomyopathy and hyperthyroidism. The combination of hypertrophic cardiomyopathy and hyperthyroidism gives rise to a complex clinical picture as some of the symptoms and signs may be common to both conditions. The presentation and investigation of three patients are reported. In one patient there was evidence of progression from the hypertrophic obstructive phase to that associated with loss of outflow tract obstruction. The echocardiogram was especially useful in assessing the presence or absence of hypertrophic disease in the thyrotoxic subject. It is suggested that the long continued high-output circulatory state in clinically undetected hyperthyroidism may prove to be a stimulus for unrestrained cardiac muscle hypertrophy. Images PMID:4281112

  14. Management of scar contractures, hypertrophic scars, and keloids.

    PubMed

    Sherris, D A; Larrabee, W F; Murakami, C S

    1995-10-01

    Aberrant fibrous tissue formation after surgery or trauma still presents a challenge to surgeons. Current research hopes to identify the characteristics of the population of fibroblasts that lead to hypertrophic or keloid scar formation. Surgical procedures and laser therapy followed by intralesional steroid treatments still are the foundation of treatment; but new modalities are being applied. The pathogenesis and management of hypertrophic scars, keloids, and scar contractures are discussed in this article.

  15. Hypertrophic osteoarthropathy associated with Fallot's tetralogy—a case report

    PubMed Central

    George, B. Olu.; Mabayoje, J. Olu.

    1975-01-01

    A case of Fallot's tetralogy associated with hypertrophic osteoarthropathy in a young Nigerian female is described. The clinical spectrum of hypertrophic osteoarthropathy is reviewed. The rarity of this syndrome is stressed. Some other aspects of the clinical manifestation of cyanotic congenital heart disease which may mimic the skeletal syndrome are mentioned. ImagesFig. 1Fig. 2Fig. 3Fig. 4Fig. 5Fig. 6 PMID:1197165

  16. Neonatal and infantile acne vulgaris: an update.

    PubMed

    Serna-Tamayo, Cristian; Janniger, Camila K; Micali, Giuseppe; Schwartz, Robert A

    2014-07-01

    Acne may present in neonates, infants, and small children. Neonatal and infantile acne vulgaris are not considered to be rare. The presentation of acne in this patient population sometimes represents virilization and may portend later development of severe adolescent acne. Neonatal and infantile acne vulgaris must be distinguished from other cutaneous disorders seen in newborns and infants. Infantile acne tends to be more pleomorphic and inflammatory, thus requiring more vigorous therapy than neonatal acne.

  17. Ileocecal Valve as Substitute for the Missing Pyloric Sphincter After Partial Distal Gastrectomy

    PubMed Central

    Metzger, Jürg; Degen, Lukas P.; Beglinger, Christoph; Siegemund, Martin; Studer, Wolfgang; Heberer, Michael; Harder, Felix; von Flüe, Markus O.

    2002-01-01

    Objectives Accelerated gastric emptying (including dumping syndrome) occurs frequently after gastric resections, largely resulting from rapid entry of meal contents into the small intestine. The authors hypothesized that an ileocecal segment used as an interpositional graft placed between the remaining part of the stomach and the small intestine would slow down food transit and thus replace pyloric function. Methods Thirty Göttingen minipigs were randomized into three groups. Group 1: partial gastrectomy and Roux-en-Y reconstruction; Group 2: partial gastrectomy and ileocecal interpositional graft; and Group 3: sham laparotomy. Gastric emptying in the nonsedated animals was quantified using radioscintigraphy at 3 and 6 months postoperatively. The animals ingested 300 grams of soft food containing 99mTc labeled resin- pellets using a technique previously described. Data were analyzed using ANOVA. Results Three months postoperatively, the ileocecal group had a significantly prolonged gastric emptying time compared with the Roux-en-Y group, but gastric emptying time was also significantly faster compared to the control group (sham laparotomy). After 6 months no significant difference was seen between the ileocecal group and the controls, while emptying rates were still significantly faster in the Roux-en-Y group. Conclusions Reconstruction of the gastric reservoir with an ileocecal segment largely restores gastric emptying patterns of food in minipigs. Six months postoperatively, gastric emptying time is similar to that of controls, and significantly slower when compared with the group with Roux-en-Y reconstruction. These results suggest that the ileocecal interposition graft could offer specific advantages over current reconstruction procedures. PMID:12131082

  18. Dietary phosphorus-responsive genes in the intestine, pyloric ceca, and kidney of rainbow trout.

    PubMed

    Sugiura, Shozo H; Ferraris, Ronaldo P

    2004-09-01

    Identification of phosphorus (P)-responsive genes is important in diagnosing the adequacy of dietary P intake well before clinical symptoms arise. The mRNA abundance of selected genes was determined in the intestine, pyloric ceca, and kidney of rainbow trout fed low-P (LP) or sufficient-P (SP) diet for 2, 5, and 20 days. The LP-to-SP ratio (LP/SP) of mRNA abundance was used to evaluate the difference in gene expression between LP and SP fish, and to compare the response with bone and serum P, which are conventional indicators of P status. The LP/SP of intestinal, cecal, and renal type II sodium-phosphate cotransporter (NaPi-II) mRNA abundance changed from approximately 1-2 (day 2) to approximately 1.4-4 (day 5) and to approximately 2-10 (day 20). The LP/SP of renal NaPi-II, vitamin D 24-hydroxylase, and vitamin D receptor mRNA abundance correlated inversely with serum P on day 5 but not on day 2 and day 20. In another study, differentially expressed genes between LP and SP fish were examined by subtractive hybridization, confirmed by Northern blot, and evaluated by t-test and correlation with serum and bone P concentrations. About 30 genes were identified as dietary P responsive at day 20, including intestinal meprin and cysteinesulfinic acid decarboxylase, renal S100 calcium-binding protein and mitochondrial P(i) carrier, and cecal apolipoprotein E, somatomedin B-related protein, and NaPi-II. The LP/SP of mRNA abundance of renal mitochondrial P(i) carrier and intestinal cysteinesulfinic acid decarboxylase changed significantly by day 2, and intestinal meprin by day 5. Hence, these genes and NaPi-II are among the earliest steady-response genes capable of predicting P deficiency well before the onset of clinical deficiency.

  19. Infantile masturbation and paroxysmal disorders.

    PubMed

    Omran, Mohammadreza Salehi; Ghofrani, Mohammad; Juibary, Ali Ghabeli

    2008-02-01

    A recurrent paroxysmal presentation in children leads to different diagnoses and among them are neurologic and cardiac etiologies. Infantile masturbation is not a well known entity and cannot be differentiated easily from other disorders. Aim of this study is to elucidate and differentiate this condition from epileptic seizures. We report 3 cases of 10 to 30 mth old girls of infantile masturbation that their symptoms initiated at 2, 3 and 8 mth of age. These present with contraction and extension of lower extremities, scissoring of legs, perspiration, changing face color. In 2 cases body rocking and legs rubbing initiated then there after. Masturbation is one of the paroxysmal non-epileptic conditions of early infancy and is in differential diagnosis of epileptic seizures.

  20. Infantile colic, facts and fiction

    PubMed Central

    2012-01-01

    Infantile colic is one of the major challenges of parenthood. It is one of the common reasons parents seek medical advice during their child’s first 3 months of life. It is defined as paroxysms of crying lasting more than 3 hours a day, occurring more than 3 days in any week for 3 weeks in a healthy baby aged 2 weeks to 4 months. Colic is a poorly understood phenomenon affecting up to 30% of babies, underlying organic causes of excessive crying account for less than 5%. Laboratory tests and radiological examinations are unnecessary if the infant is gaining weight normally and has a normal physical examination. Treatment is limited and drug treatment has no role in management. Probiotics are now emerging as promising agents in the treatment of infantile colic. Alternative medicine (Herbal tea, fennel, glucose and massage therapy) have not proved to be consistently helpful and some might even be dangerous. In conclusion infantile colic is a common cause of maternal distress and family disturbance, the cornerstone of management remains reassurance of parents regarding the benign and self-limiting nature of the illness. There is a critical need for more evidence based treatment protocols. PMID:22823993

  1. The localization of two voltage-gated calcium channels in the pyloric network of the lobster stomatogastric ganglion.

    PubMed

    French, L B; Lanning, C C; Harris-Warrick, R M

    2002-01-01

    Voltage-gated calcium channels are critical to all aspects of nervous system function, with differing roles within the neuronal somata, at synaptic terminals, and at the neuromuscular junction. We have developed antibodies against two voltage-gated Ca(2+) channel genes from the spiny lobster, Panulirus interruptus, which are homologous to the Drosophila Ca1A (a P/Q-type channel) and Ca1D (an L-type channel) genes. Using these antibodies, we have found that each channel shows unique patterns of localization within the stomatogastric nervous system. Both antibodies stain somata of most of the neurons in the pyloric network to varying degrees. The high degree of variability in staining intensity within individual pyloric cell classes supports the hypothesis of Golowasch et al. (1999a,b) that individual cells can vary in their composition of ionic currents and still have similar firing properties. Anti-Ca1A stains structures in the neuropil, some of which are terminals of axons descending from higher ganglia; however, the majority of these are neither neurites nor blood vessels, but may instead be glial cells or other support elements. Anti-Ca1A labeling was also prominent in the peripheral axons of pyloric motoneurons as they enter muscles, indicating that this channel may be involved in regulation of synaptic transmission onto the foregut muscles. Anti-Ca1D does not label neurites in the neuropil of the stomatogastric ganglion. It stains glial cells in the stomatogastric ganglion in the region of their nuclei, presumably from protein being produced in the perinuclear rough endoplasmic reticulum, en route to the glial cell periphery. While anti-Ca1D labeling is seen in a patchy distribution along peripheral pyloric axons, it was never seen near the muscle. We conclude that the localization of these two calcium channels is tightly controlled within the stomatogastric nervous system, but we cannot conclusively demonstrate that Ca1A and/or Ca1D channels play roles in

  2. Cardiac norepinephrine kinetics in hypertrophic cardiomyopathy

    SciTech Connect

    Brush, J.E. Jr.; Eisenhofer, G.; Garty, M.; Stull, R.; Maron, B.J.; Cannon, R.O. III; Panza, J.A.; Epstein, S.E.; Goldstein, D.S.

    1989-04-01

    We examined the uptake and release of norepinephrine in the cardiac circulation and other regional vascular beds in 11 patients with hypertrophic cardiomyopathy (HCM) and in 10 control subjects during simultaneous infusion of tracer-labeled norepinephrine and isoproterenol. Cardiac neuronal uptake of norepinephrine was assessed by comparing regional removal of tracer-labeled norepinephrine with that of tracer-labeled isoproterenol (which is not a substrate for neuronal uptake) and by the relation between production of dihydroxyphenylglycol (DHPG), an exclusively intraneuronal metabolite of norepinephrine, and regional spillover of norepinephrine. Cardiac extraction of norepinephrine averaged 59 +/- 17% in the patients with HCM, significantly less than in the control subjects (79 +/- 13%, p less than 0.05), whereas cardiac extraction of isoproterenol was similar in the two groups (13 +/- 23% versus 13 +/- 14%), indicating that neuronal uptake of norepinephrine was decreased in the patients with HCM. The cardiac arteriovenous difference in norepinephrine was significantly larger in the patients with HCM than in the control subjects (73 +/- 77 versus 13 +/- 50 pg/ml, p less than 0.05), as was the product of the arteriovenous difference in norepinephrine and coronary blood flow (7.3 +/- 7.3 versus 0.8 +/- 3.0 ng/min, p less than 0.05).

  3. Paraneoplastic hypertrophic osteopathy in 30 dogs

    PubMed Central

    Withers, S. S.; Johnson, E. G.; Culp, W. T. N.; Rodriguez, C. O.; Skorupski, K. A.; Rebhun, R. B.

    2016-01-01

    Paraneoplastic hypertrophic osteopathy (pHO) is known to occur in both canine and human cancer patients. While the pathology of pHO is well-described in the dog, very little information exists regarding the true clinical presentation of dogs affected with pHO. The primary objective of this study was to provide a more comprehensive clinical picture of pHO. To this end, we retrospectively identified 30 dogs and recorded data regarding presenting complaints and physical examination (PE) findings on the date of pHO diagnosis. As a secondary objective, any blood test results were also collected from the computerized records. The most common clinical signs included leg swelling, ocular discharge and/or episcleral injection, lameness, and lethargy. The most common haematological and serum biochemical abnormalities included anaemia, neutrophilia and elevated alkaline phosphatase. In addition to presenting a more detailed clinical description of pHO in the dog, these data support the previously described haematological, serum biochemical and PE abnormalities published in individual case reports. PMID:23489591

  4. Hypertrophic olivary degeneration secondary to pontine haemorrhage.

    PubMed

    Wein, Sara; Yan, Bernard; Gaillard, Frank

    2015-07-01

    We report a 58-year-old man who developed hyptertrophic olivary degeneration (HOD) after haemorrhage of a cavernous malformation in the pons. Lesions of the triangle of Guillain and Mollaret (the dentatorubro-olivary pathway) may lead to HOD, a secondary transsynaptic degeneration of the inferior olivary nucleus. HOD is considered unique because the degenerating olive initially becomes hypertrophic rather than atrophic. The primary lesion causing pathway interruption is often haemorrhage, either due to hypertension, trauma, surgery or, as in our patient, a vascular malformation such as a cavernoma. Ischaemia and demyelination can also occasionally be the inciting events. The classic clinical presentation of HOD is palatal myoclonus, although not all patients with HOD develop this symptom. The imaging features of HOD evolve through characteristic phases. The clue to the diagnosis of HOD is recognition of the distinct imaging stages and identification of a remote primary lesion in the triangle of Guillain and Mollaret. Familiarity with the classic imaging findings of this rare phenomenon is necessary in order to avoid misdiagnosis and prevent unnecessary intervention.

  5. Paraneoplastic hypertrophic osteopathy in 30 dogs.

    PubMed

    Withers, S S; Johnson, E G; Culp, W T N; Rodriguez, C O; Skorupski, K A; Rebhun, R B

    2015-09-01

    Paraneoplastic hypertrophic osteopathy (pHO) is known to occur in both canine and human cancer patients. While the pathology of pHO is well-described in the dog, very little information exists regarding the true clinical presentation of dogs affected with pHO. The primary objective of this study was to provide a more comprehensive clinical picture of pHO. To this end, we retrospectively identified 30 dogs and recorded data regarding presenting complaints and physical examination (PE) findings on the date of pHO diagnosis. As a secondary objective, any blood test results were also collected from the computerized records. The most common clinical signs included leg swelling, ocular discharge and/or episcleral injection, lameness, and lethargy. The most common haematological and serum biochemical abnormalities included anaemia, neutrophilia and elevated alkaline phosphatase. In addition to presenting a more detailed clinical description of pHO in the dog, these data support the previously described haematological, serum biochemical and PE abnormalities published in individual case reports.

  6. Potential applications for transesophageal echocardiography in hypertrophic cardiomyopathies.

    PubMed

    Widimsky, P; Ten Cate, F J; Vletter, W; van Herwerden, L

    1992-01-01

    The purpose of the present study was to evaluate the potential advantages of transesophageal echocardiography (TEE) in comparison with transthoracic echocardiography (TTE) in selected patients with hypertrophic cardiomyopathy. Ten patients with previously established or suspected diagnosis of hypertrophic cardiomyopathy were examined by TEE to solve specific clinical questions. TEE was well tolerated by all patients; no arrhythmias were seen during the procedure. The comparison of TTE and TEE showed the following: Advantages of TTE--better assessment of the left ventricle, myocardial thickness measurements available in all regions and sufficient for the diagnosis of hypertrophic cardiomyopathy in nine out of 10 patients; advantages of TEE--precise assessment of mitral valve morphology and regurgitant jets, detailed evaluation of systolic anterior motion, and subaortic membrane (not seen by TTE) recognized in one patient. Clinically, in three patients TEE influenced the management (mitral leaflet perforation, subaortic membrane, and residual mitral regurgitation after valvuloplasty). Thus TEE enables more precise diagnosis in some patients with hypertrophic cardiomyopathy and has the potential to influence their surgical management. However, for medical treatment of hypertrophic cardiomyopathy, TTE is sufficient.

  7. Medicinal Plants for the Treatment of Hypertrophic Scars

    PubMed Central

    Ye, Qi; Wang, Su-Juan; Chen, Jian-Yu; Xin, Hai-Liang; Zhang, Hong

    2015-01-01

    Hypertrophic scar is a complication of wound healing and has a high recurrence rate which can lead to significant abnormity in aesthetics and functions. To date, no ideal treatment method has been established. Meanwhile, the underlying mechanism of hypertrophic scarring has not been clearly defined. Although a large amount of scientific research has been reported on the use of medicinal plants as a natural source of treatment for hypertrophic scarring, it is currently scattered across a wide range of publications. Therefore, a systematic summary and knowledge for future prospects are necessary to facilitate further medicinal plant research for their potential use as antihypertrophic scar agents. A bibliographic investigation was accomplished by focusing on medicinal plants which have been scientifically tested in vitro and/or in vivo and proved as potential agents for the treatment of hypertrophic scars. Although the chemical components and mechanisms of action of medicinal plants with antihypertrophic scarring potential have been investigated, many others remain unknown. More investigations and clinical trials are necessary to make use of these medical plants reasonably and phytotherapy is a promising therapeutic approach against hypertrophic scars. PMID:25861351

  8. Mechanisms underlying stabilization of temporally summated muscle contractions in the lobster (Panulirus) pyloric system.

    PubMed

    Morris, L G; Hooper, S L

    2001-01-01

    Muscles are the final effectors of behavior. The neural basis of behavior therefore cannot be completely understood without a description of the transfer function between neural output and muscle contraction. To this end, we have been studying muscle contraction in the well-investigated lobster pyloric system. We report here the mechanisms underlying stabilization of temporally summating contractions of the very slow dorsal dilator muscle in response to motor nerve stimulation with trains of rhythmic shock bursts at a physiological intraburst spike frequency (60 Hz), physiological cycle periods (0.5-2 s), and duty cycles from 0.1 to 0.8. For temporal summation to stabilize, the rise and relaxation amplitudes of the phasic contractions each burst induces must equalize as the rhythmic train continues. Stabilization could occur by changes in rise duration, rise slope, plateau duration, and/or relaxation slope. We demonstrate a generally applicable method for quantifying the relative contribution changes in these characteristics make to contraction stabilization. Our data show that all characteristics change as contractions stabilize, but their relative contribution differs depending on stimulation cycle period and duty cycle. The contribution of changes in rise duration did not depend on period or duty cycle for the 1-, 1.5-, and 2-s period regimes, contributing approximately 30% in all cases; but for the 0.5-s period regime, changes in rise duration increased from contributing 25% to contributing 50% as duty cycle increased from 0.1 to 0.8. At all cycle periods decreases in rise slope contributed little to stabilization at small duty cycles but increased to contributing approximately 80% at high duty cycles. The contribution of changes in plateau duration decreased in all cases as duty cycle increased; but this decrease was greater in long cycle period regimes. The contribution of changes in relaxation slope also decreased in all cases as duty cycle increased; but

  9. Advances in medical treatment of hypertrophic cardiomyopathy.

    PubMed

    Hamada, Mareomi; Ikeda, Shuntaro; Shigematsu, Yuji

    2014-07-01

    We reviewed the natural history of patients with hypertrophic cardiomyopathy (HCM). The effect of medical treatments on natural history, left ventricular (LV) functions and LV remodeling was also evaluated. Sudden cardiac death and end-stage heart failure are the most serious complications of HCM. Age <30 years and a family history of sudden premature death are risk factors for sudden cardiac death in HCM patients. End-stage heart failure is not a specific additional phenomenon observed in patients with HCM, but is the natural course of the disease in most of those patients. After the occurrence of heart failure, the progression to cardiac death is very rapid. Young age at diagnosis, a family history of HCM, and greater wall thickness are associated with a greater likelihood of developing end-stage heart failure. Neither beta-blockers nor calcium antagonists can prevent this transition. The class Ia antiarrhythmic drugs, disopyramide and cibenzoline are useful for the reduction of LV pressure gradient. Unlike disopyramide, cibenzoline has little anticholinergic activity; therefore, this drug can be easily adapted to long-term use. In addition to the reduction in LV pressure gradient, cibenzoline can improve LV diastolic dysfunction, and induce regression of LV hypertrophy in patients with HCM. A decrease in intracellular Ca(2+) concentration through the activation of the Na(+)/Ca(2+) exchanger associated with cibenzoline therapy is likely to be closely related with the improvement in HCM-related disorders. It is possible that cibenzoline can prevent the progression from typical HCM to end-stage heart failure.

  10. Infantile spasms: A prognostic evaluation

    PubMed Central

    Iype, Mary; Saradakutty, Geetha; Kunju, Puthuvathra Abdul Mohammed; Mohan, Devi; Nair, Muttathu Krishnapanicker Chandrasekharan; George, Babu; Ahamed, Shahanaz M.

    2016-01-01

    Background: Few papers address the comprehensive prognosis in infantile spasms and look into the seizure profile and psychomotor outcome. Objective: We aimed to follow up children with infantile spasms to study: a) the etiology, demographics, semiology, electroencephalogram (EEG), and radiological pattern; b) seizure control, psychomotor development, and EEG resolution with treatment; c) the effects of various factors on the control of spasms, resolution of EEG changes, and psychomotor development at 3-year follow-up. Materials and Methods: Fifty newly diagnosed cases with a 1-12 month age of onset and who had hypsarrhythmia in their EEG were recruited and 43 were followed up for 3 years. Results: Of the children followed up, 51% were seizure-free and 37% had a normal EEG at the 3-year follow-up. Autistic features were seen in 74% of the children. Only 22.7% among the seizure-free (11.6% of the total) children had normal vision and hearing, speech with narration, writing skills, gross and fine motor development, and no autism or hyperactivity. On multivariate analysis, two factors could predict bad seizure outcome — the occurrence of other seizures in addition to infantile spasms and no response to 28 days of adrenocorticotropic hormone (ACTH). No predictor could be identified for abnormal psychomotor development. Discussion and Conclusion: In our study, we could demonstrate two factors that predict seizure freedom. The cognitive outcome and seizure control in this group of children are comparable to the existing literature. However, the cognitive outcome revealed by our study and the survey of the literature are discouraging. PMID:27293335

  11. Familial idiopathic hypertrophic osteoarthropathy and cranial suture defects in children

    SciTech Connect

    Reginato, A.J.; Schiapachasse, V.; Guerrero, R.

    1982-05-01

    Three children with idiopathic hypertrophic osteoarthropathy and cranial suture defects are reported. The syndrome was recognized after birth and in the two oldest siblings, the cranial defects and subperiosteal bone formation resolved almost completely by age 4 and 6 years. The joint swelling and clubbing persisted and mild bone reabsorption of the distal phalanges became apparent at an older age. Two siblings and both parents had normal bone X-rays and no clubbing. This study confirms the association of cranial sutural defects and familial idopathic hypertrophic osteoarthropathy.

  12. Prolonged esophagitis after primary dysfunction of the pyloric sphincter in the rat and therapeutic potential of the gastric pentadecapeptide BPC 157.

    PubMed

    Dobric, Ivan; Drvis, Petar; Petrovic, Igor; Shejbal, Drazen; Brcic, Luka; Blagaic, Alenka Boban; Batelja, Lovorka; Sever, Marko; Kokic, Neven; Tonkic, Ante; Zoricic, Ivan; Mise, Sandro; Staresinic, Mario; Radic, Bozo; Jakir, Ana; Babel, Jaksa; Ilic, Spomenko; Vuksic, Tihomir; Jelic, Ivan; Anic, Tomislav; Seiwerth, Sven; Sikiric, Predrag

    2007-05-01

    Seven or fourteen days or twelve months after suturing one tube into the pyloric sphincter (removed by peristalsis by the seventh day), rats exhibit prolonged esophagitis with a constantly lowered pressure not only in the pyloric, but also in the lower esophageal sphincter and a failure of both sphincters. Throughout the esophagitis experiment, gastric pentadecapeptide BPC 157 (PL 14736) is given intraperitoneally once a day (10 microg/kg, 10 ng/kg, last application 24 h before assessment), or continuously in drinking water at 0.16 microg/ml, 0.16 ng/ml (12 ml/rat per day), or directly into the stomach 5 min before pressure assessment (a water manometer connected to the drainage port of a Foley catheter implanted into the stomach either through an esophageal or duodenal incision). This treatment alleviates i) the esophagitis (macroscopically and microscopically, at either region or interval), ii) the pressure in the pyloric sphincter, and iii) the pressure in the lower esophageal sphincter (cmH2O). In the normal rats it increases lower esophageal sphincter pressure, but decreases the pyloric sphincter pressure. Ranitidine, given using the same protocol (50 mg/kg, intraperitoneally, once daily; 0.83 mg/ml in drinking water; 50 mg/kg directly into the stomach) does not have an effect in either rats with esophagitis or in normal rats.

  13. Practice Parameter: Medical Treatment of Infantile Spasms

    PubMed Central

    Mackay, M.T.; Weiss, S.K.; Adams-Webber, T.; Ashwal, S.; Stephens, D.; Ballaban-Gill, K.; Baram, T.Z.; Duchowny, M.; Hirtz, D.; Pellock, J.M.; Shields, W.D.; Shinnar, S.; Wyllie, E.; Snead, O.C.

    2010-01-01

    Objective To determine the current best practice for treatment of infantile spasms in children. Methods Database searches of MEDLINE from 1966 and EMBASE from 1980 and searches of reference lists of retrieved articles were performed. Inclusion criteria were the documented presence of infantile spasms and hypsarrhythmia. Outcome measures included complete cessation of spasms, resolution of hypsarrhythmia, relapse rate, developmental outcome, and presence or absence of epilepsy or an epileptiform EEG. One hundred fifty-nine articles were selected for detailed review. Recommendations were based on a four-tiered classification scheme. Results Adrenocorticotropic hormone (ACTH) is probably effective for the short-term treatment of infantile spasms, but there is insufficient evidence to recommend the optimum dosage and duration of treatment. There is insufficient evidence to determine whether oral corticosteroids are effective. Vigabatrin is possibly effective for the short-term treatment of infantile spasm and is possibly also effective for children with tuberous sclerosis. Concerns about retinal toxicity suggest that serial ophthalmologic screening is required in patients on vigabatrin; however, the data are insufficient to make recommendations regarding the frequency or type of screening. There is insufficient evidence to recommend any other treatment of infantile spasms. There is insufficient evidence to conclude that successful treatment of infantile spasms improves the long-term prognosis. Conclusions ACTH is probably an effective agent in the short-term treatment of infantile spasms. Vigabatrin is possibly effective. PMID:15159460

  14. Food allergy and infantile autism.

    PubMed

    Lucarelli, S; Frediani, T; Zingoni, A M; Ferruzzi, F; Giardini, O; Quintieri, F; Barbato, M; D'Eufemia, P; Cardi, E

    1995-09-01

    The etiopathogenesis of infantile autism is still unknown. Recently some authors have suggested that food peptides might be able to determine toxic effects at the level of the central nervous system by interacting with neurotransmitters. In fact a worsening of neurological symptoms has been reported in autistic patients after the consumption of milk and wheat. The aim of the present study has been to verify the efficacy of a cow's milk free diet (or other foods which gave a positive result after a skin test) in 36 autistic patients. We also looked for immunological signs of food allergy in autistic patients on a free choice diet. We noticed a marked improvement in the behavioural symptoms of patients after a period of 8 weeks on an elimination diet and we found high levels of IgA antigen specific antibodies for casein, lactalbumin and beta-lactoglobulin and IgG and IgM for casein. The levels of these antibodies were significantly higher than those of a control group which consisted of 20 healthy children. Our results lead us to hypothesise a relationship between food allergy and infantile autism as has already been suggested for other disturbances of the central nervous system.

  15. Management of difficult infantile haemangiomas.

    PubMed

    Maguiness, Sheilagh M; Frieden, Ilona J

    2012-03-01

    Infantile haemangiomas are common vascular tumours of infancy. They typically present shortly after birth, undergo a period of rapid proliferation, and then slowly involute over many years. Although most patients require no intervention, appropriate investigation and treatment may be necessary in a minority of cases. Identifying which patients require further investigation or intervention can be difficult due to the heterogeneity of clinical presentation. This is compounded by a lack of rigorous randomised controlled trials on haemangioma management. Therefore, the rationale for treatment is not always straightforward. Haemangiomas occur anywhere on the body, have superficial, deep or mixed morphology, and depending on anatomic location, size and subtype, can be associated with underlying structural anomalies and many other potential complications. Generally, the management of difficult haemangiomas is best approached on a case-by-case basis. Over the last few years, there have been several advances in our understanding of haemangiomas, together with some exciting new therapeutic options. In the following review, the authors discuss the various possible complications of infantile haemangiomas, the rationale for treatment and appropriate possible interventions.

  16. Signaling mechanisms in infantile hemangioma

    PubMed Central

    Boye, Eileen; Olsen, Bjorn R.

    2010-01-01

    Purpose of review Infantile hemangioma is a common vascular tumor with a unique lifecycle: rapid growth in infancy, followed by a period of involution, leading to complete regression. This review summarizes recent studies of molecular mechanisms of hemangioma formation and places new findings and hypotheses in the context of past accomplishments. Recent findings The new work identifies a novel signaling pathway for vascular growth factor and extracellular matrix regulation in vascular endothelial cells and provides a basis for novel therapeutic strategies. In hemangioma-derived endothelial cells defects in a vascular endothelial growth factor receptor/integrin complex reduce the expression of a vascular endothelial growth factor decoy receptor. As a consequence, hemangioma endothelial cells exhibit constitutive vascular endothelial growth factor signaling. Germ-line mutations in components of the growth factor receptor/integrin complex in some hemangioma patients, and somatic mutations in a phosphatase in sporadic hemangioma specimens, raise the possibility that hemangioma formation involves a combination of germline risk factor mutations and somatic mutations, similar to what recent studies have shown is the case for venous malformations. Summary Alterations in pathways that negatively control vascular endothelial growth factor signaling in vascular endothelial cells are responsible for the formation and rapid growth of infantile hemangiomas. PMID:19367160

  17. The Link Between Infantile Colic and Migraine.

    PubMed

    Qubty, William; Gelfand, Amy A

    2016-05-01

    Infantile colic is a self-limiting disorder of excessive infant crying or fussiness that peaks at 6 weeks of age and typically improves by 3 months of age. The etiology of infantile colic has yet to be definitively elucidated, but there is increasing research to support its relationship to migraine. The aims of this review are to present recent research investigating the connection between infantile colic and migraine. The importance of identifying this connection is useful in reducing invasive and potentially harmful investigations and to identify age appropriate pharmacologic interventions that would be safe in this population.

  18. A case of hypertrophic osteoarthropathy in a Belgian blue cow

    PubMed Central

    Guyot, Hugues; Sandersen, Charlotte; Rollin, Frédéric

    2011-01-01

    A 12-year-old cow was presented with chronic respiratory disease and lameness. Chronic pleuritis, pneumonia, and bronchial carcinoma were found as well as periosteal proliferation on limb bones. Ancillary tests and necropsy confirmed a combined pathology of pulmonary inflammation and neoplasm, and hypertrophic pulmonary osteopathy. PMID:22654134

  19. Hypertrophic Cardiomyopathy: Practical Steps for Preventing Sudden Death.

    ERIC Educational Resources Information Center

    Maron, Barry J.

    2002-01-01

    Hypertrophic cardiomyopathy (HCM) is a rare cause of death among athletes, with deaths occurring in young, apparently healthy people. Differentiating HCM from conditioning hypertrophy is challenging. Routine detection involves family history, physical examination, electrocardiography, and echocardiography. Keys to differential diagnosis include…

  20. Hypertrophic cardiomyopathy in infants: clinical features and natural history

    SciTech Connect

    Maron, B.J.; Tajik, A.J.; Ruttenberg, H.D.; Graham, T.P.; Atwood, G.F.; Victorica, B.E.; Lie, J.T.; Roberts, W.C.

    1982-01-01

    The clinical and morphologic features of hypertrophic cardiomyopathy in 20 patients recognized as having cardiac disease in the first year of life are described. Fourteen of these 20 infants were initially suspected of having heart disease solely because a heart murmur was identified. However, the infants showed a variety of clinical findings, including signs of marked congestive heart failure (in the presence of nondilated ventricular cavities and normal or increased left ventricular contractility) and substantial cardiac enlargement on chest radiograph. Other findings were markedly different from those usually present in older children and adults with hypertrophic cardiomyopathy (e.g., right ventricular hypertrophy on the ECG and cyanosis). Consequently, in 14 infants, the initial clinical diagnosis was congenital cardiac malformation other than hypertrophic cardiomyopathy. The clinical course was variable in these patients, but the onset of marked congestive heart failure in the first year of life appeared to be an unfavorable prognostic sign; nine of the 11 infants with congestive heart failure died within the first year of life. In infants with hypertrophic cardiomyopathy, unlike older children and adults with this condition, sudden death was less common (two patients) than death due to progressive congestive heart failure.

  1. Antisecretory, antioxidative and antiapoptotic effects of montelukast on pyloric ligation and water immersion stress induced peptic ulcer in rat.

    PubMed

    Muthuraman, Arunachalam; Sood, Shailja

    2010-07-01

    In the present study, we tried to explore the mechanism of montelukast as an antiulcerogenic agent in pyloric ligation (PL) and water immersion stress (WIS) induced peptic ulcer. The ameliorative effects of montelukast (5, 10, and 20 mg/kg, p.o.) on gastric volume and total acidity were studied in PL model. We have investigated the alteration in the ulcerative index, thiobarbituric acid reactive substances, reduced glutathione, activity of myeloperoxidase, and total calcium level in both models. Estimation of DNA fragmentation by gel electrophoresis was also performed. Medium and higher doses of montelukast showed significant (p<0.05) ameliorative potential on all the above parameters as compared with omeprazole treated group. DNA fragmentation pattern clearly indicated the antiapoptotic effect of montelukast in preventing mucosal erosion in both models. Hence, the gastroprotective effect of montelukast may be attributed to its antisecretory, antioxidative along with its antiapoptotic effect.

  2. The effects of restraint on uptake of radioactive sulfate in the salivary and gastric secretions of rats with pyloric ligation

    NASA Technical Reports Server (NTRS)

    Chayvialle, J. A.; Lambert, R.; Ruet, D.

    1980-01-01

    The effects of restraint on the amount of nondialysable radioactive sulfate in the gastric wall and the gastric juice and saliva were investigated. It was found that restraint provokes a significant decrease in salivary radioactive sulfate. This, in turn, is responsible for the decrease of sulfate in the gastric contents observed under these conditions in rats with pyloric ligation. Esophageal ligation associated with this prevents passage of saliva and lowers the amount of radioactive sulfate in the gastric juice. Restraint causes then an increase in the amount of sulfate in the gastric juice, the value observed being very much lower than that of rats with a free esophagus. At the level of the gastric wall, the change observed during restraint does not reach a significant threshold.

  3. Early Infantile Autism and Autistic Psychopathy

    ERIC Educational Resources Information Center

    Van Krevelen, D. Arn

    1971-01-01

    The paper tries to assign to autistic psychopathy a definite place in psychiatric nosology and to delineate sharply the differences between the essential characteristics of it and of early infantile autism. (Author)

  4. Neurological complications of infantile osteopetrosis.

    PubMed

    Lehman, R A; Reeves, J D; Wilson, W B; Wesenberg, R L

    1977-11-01

    Seven cases of infantile osteopetrosis are presented. Five of these were available for detailed clinical examination and 2 for retrospective review, including autopsy slides. Neurological deficits in these patients are reviewed. Involvement of the central nervous system parenchyma was suggested by observations of delayed development, ocular abnormalities, and reflex changes as well as radiographic and autopsy findings. Cerebral atrophy was present in several of our patients as well as some reported in the literature and may account for the ventricular enlargement found in many of these patients. Though hydrocephalus may be present, it is unclear that this is frequent or that it can occur without antecedent intracranial hemorrhage. The large head size is not accounted for by calvarial thickening or by hydrocephalus. Despite our patients' small stature, pituitary function appeared to be normal. Surgical decompression may stabilize cranial nerve function, particularly when the optic nerves are involved.

  5. A Survey of Infantile Gastroenteritis

    PubMed Central

    Ironside, Alastair G.; Tuxford, Ann F.; Heyworth, Barrie

    1970-01-01

    In 1967 we admitted 339 cases of infantile gastroenteritis; one-third of these were dehydrated, and in this group the commonest biochemical abnormality found was hypernatraemia, sometimes with metabolic acidosis. A higher incidence of dehydration was found in the patients who had received oral glucose fluids before admission. Enteropathic Escherichia coli were isolated from the faeces of 16% of the cases. Associated infections, especially of the respiratory tract, were common. Treatment was aimed at the restoration of fluid and electrolyte balance. Usually this was achieved with oral fluids, though intravenous fluids were used in the most severely dehydrated cases. Recovery was complete in 320 cases and a further 14 cases were discharged as carriers of enteropathic E. coli. There were five deaths (1·5%) in the series; three occurred immediately after admission. PMID:4913493

  6. Infantile haemangioma: a complicated disease.

    PubMed

    Qiu, Mingke; Qi, Xianqin; Dai, Yuxin; Wang, Shuqing; Quan, Zhiwei; Liu, Yingbin; Ou, Jingmin

    2015-06-01

    Infantile haemangiomas (IH) are common benign vascular tumors of childhood. They are characterised by rapid growth during the first year of life and slow regression that is usually completed by 7-10 years of age. The underlying mechanism of action of IH is aberrant angiogenesis and vasculogenesis, and involves the mammalian target of rapamycin pathway and vascular endothelial growth factor pathway. IH become a challenge if they are part of a syndrome, are located in certain areas of the body, or if complications develop. The beta-adrenergic receptor blocker propranolol is a promising new candidate for first-line systemic therapy. This review focuses on the clinical characteristics, pathogenesis and management of IH.

  7. Hypertrophic Cardiomyopathy Registry (HCMR): The rationale and design of an international, observational study of hypertrophic cardiomyopathy

    PubMed Central

    Kramer, Christopher M.; Appelbaum, Evan; Desai, Milind Y.; Desvigne-Nickens, Patrice; DiMarco, John P.; Friedrich, Matthias G.; Geller, Nancy; Heckler, Sarahfaye; Ho, Carolyn Y.; Jerosch-Herold, Michael; Ivey, Elizabeth A.; Keleti, Julianna; Kim, Dong-Yun; Kolm, Paul; Kwong, Raymond Y.; Maron, Martin S.; Schulz-Menger, Jeanette; Piechnik, Stefan; Watkins, Hugh; Weintraub, William S.; Wu, Pan; Neubauer, Stefan

    2015-01-01

    Hypertrophic cardiomyopathy (HCM) is the most common monogenic heart disease with a frequency as high as 1 in 200. In many cases, HCM is caused by mutations in genes encoding the different components of the sarcomere apparatus. HCM is characterized by unexplained left ventricular hypertrophy (LVH), myofibrillar disarray, and myocardial fibrosis. The phenotypic expression is quite variable. While the majority of patients with HCM are asymptomatic, serious consequences are experienced in a subset of affected individuals who present initially with sudden cardiac death (SCD) or progress to refractory heart failure (HF). The HCMR study is a National Heart Lung and Blood Institute (NHLBI)-sponsored 2750 patient, 41 site, international registry and natural history study designed to address limitations in extant evidence to improve prognostication in HCM (NCT01915615). In addition to collection of standard demographic, clinical, and echocardiographic variables, patients will undergo state-of-the-art cardiac magnetic resonance (CMR) for assessment of left ventricular (LV) mass and volumes as well as replacement scarring and interstitial fibrosis. In addition, genetic and biomarker analysis will be performed. HCMR has the potential to change the paradigm of risk stratification in HCM, using novel markers to identify those at higher risk. PMID:26299218

  8. Rapidly Progressive Hypertrophic Cardiomyopathy in an Infant with Noonan syndrome with multiple Lentigines. Palliative Treatment with a Rapamycin Analog

    PubMed Central

    Hahn, Andreas; Lauriol, Jessica; Thul, Josef; Behnke-Hall, Kachina; Logeswaran, Tushiha; Schänzer, Anne; Böğürcü, Nuray; Garvalov, Boyan K.; Zenker, Martin; Gelb, Bruce D.; von Gerlach, Susanne; Kandolf, Reinhard; Kontaridis, Maria I.; Schranz, Dietmar

    2015-01-01

    Noonan syndrome with multiple lentigines (NSML) frequently manifests with hypertrophic cardiomyopathy (HCM). Recently, it was demonstrated that mTOR inhibition reverses HCM in NSML mice. We report for the first time on the effects of treatment with a rapamycin analog in an infant with LS and a malignant form of HCM. In the boy, progressive HCM was diagnosed during the first week of life and diagnosis of NSML was established at age 20 weeks by showing a heterozygous Q510E mutation in the PTPN11 gene. Immunoblotting with antibodies against pERK, pAkt, and pS6RP in fibroblasts demonstrated reduced RAS/MAPK and enhanced Akt/mTOR pathway activities. Because of the patient’s critical condition, everolimus therapy was started at age 24 weeks and continued until heart transplantation at age 36 weeks. Prior to surgery, heart failure improved from NYHA stage IV to II and brain natriuretic peptide values decreased from 9600 to <1000 pg/ml, but no reversal of cardiac hypertrophy was observed. Examination of the explanted heart revealed severe hypertrophy and myofiber disarray with extensive perivascular fibrosis. These findings provide evidence that Akt/mTOR activity is enhanced in NSML with HCM and suggest that rapamycin treatment could be principally feasible for infantile NSML. But the preliminary experiences made in this single patient indicate that therapy should start early to prevent irreversible cardiac remodelling. PMID:25708222

  9. [Risk stratification of sudden death in hypertrophic cardiomyopathy in 2016].

    PubMed

    Dubourg, Olivier; Charron, Philippe; Sirol, Marc; Siam-Tsieu, Valérie; Mansencal, Nicolas

    2016-10-01

    Patients with hypertrophic cardiomyopathy (HCM) are at an increased risk of death from many causes and sudden cardiac death is one of them. The study of the sudden cardiac death of patients with HCM has allowed the identification of risk factors and among them major risk factor are: family history of sudden cardiac death, the occurrence of syncope/dizziness, the existence of non-sustained ventricular tachycardia an abnormal blood pressure response during stress test, presence of severe left ventricular hypertrophy≥30mm. Risk stratification for sudden cardiac death is essential, for symptomatic or asymptomatic HCM patients. Two approaches are possible: the classical approach or risk stratification methods with major risk factors and the new approach using the risk-calculator recommended by the ESC. Both methods are not in opposition but complementary. The risk stratification in hypertrophic cardiomyopathy should be still improved to be sure that only the most high-risk patients receive an implantable cardiac defibrillator.

  10. Atrial Myxoma in a Patient with Hypertrophic Cardiomyopathy

    PubMed Central

    Abdou, Mahmoud; Hayek, Salim; Williams, Byron R.

    2013-01-01

    Atrial myxoma is the most common primary cardiac tumor. Patients with atrial myxoma typically present with obstructive, embolic, or systemic symptoms; asymptomatic presentation is very rare. To our knowledge, isolated association of atrial myxoma with hypertrophic cardiomyopathy has been reported only once in the English-language medical literature. We report the case of an asymptomatic 71-year-old woman with known hypertrophic cardiomyopathy in whom a left atrial mass was incidentally identified on cardiac magnetic resonance images. After surgical excision of the mass and partial excision of the left atrial septum, histopathologic analysis confirmed the diagnosis of atrial myxoma. The patient was placed on preventive implantable cardioverter-defibrillator therapy and remained asymptomatic. The management of asymptomatic cardiac myxoma is a topic of debate, because no reports definitively favor either conservative or surgical measures. PMID:24082380

  11. A Tension-Based Model Distinguishes Hypertrophic versus Dilated Cardiomyopathy.

    PubMed

    Davis, Jennifer; Davis, L Craig; Correll, Robert N; Makarewich, Catherine A; Schwanekamp, Jennifer A; Moussavi-Harami, Farid; Wang, Dan; York, Allen J; Wu, Haodi; Houser, Steven R; Seidman, Christine E; Seidman, Jonathan G; Regnier, Michael; Metzger, Joseph M; Wu, Joseph C; Molkentin, Jeffery D

    2016-05-19

    The heart either hypertrophies or dilates in response to familial mutations in genes encoding sarcomeric proteins, which are responsible for contraction and pumping. These mutations typically alter calcium-dependent tension generation within the sarcomeres, but how this translates into the spectrum of hypertrophic versus dilated cardiomyopathy is unknown. By generating a series of cardiac-specific mouse models that permit the systematic tuning of sarcomeric tension generation and calcium fluxing, we identify a significant relationship between the magnitude of tension developed over time and heart growth. When formulated into a computational model, the integral of myofilament tension development predicts hypertrophic and dilated cardiomyopathies in mice associated with essentially any sarcomeric gene mutations, but also accurately predicts human cardiac phenotypes from data generated in induced-pluripotent-stem-cell-derived myocytes from familial cardiomyopathy patients. This tension-based model also has the potential to inform pharmacologic treatment options in cardiomyopathy patients.

  12. Innovative Therapies in the Treatment of Keloids and Hypertrophic Scars

    PubMed Central

    Viera, Martha H.; Amini, Sadegh; Valins, Whitney

    2010-01-01

    Keloids and hypertrophic scars are benign fibrous overgrowths of scar tissue, which results from an abnormal response to trauma. Several therapeutic modalities have been described for the treatment and prevention of these conditions, but the optimal management approach has not yet been defined. This article reviews the most recent, innovative, therapeutic strategies for the management of hypertrophic scars and keloids, including mitomycin-C, tamoxifen citrate, methotrexate, imidazolaquinolines, retinoids, calcineurin inhibitors, phenylakylamine calcium channel blockers, botulinum toxin, vascular endothelial growth factor inhibitors, hepatocyte growth factor, basic fibroblast growth factor, interleukin-10, manosa-6-phosphate, transforming growth factor beta, antihistamines, and prostaglandin E2. No consensus in treatment regimens has been reached due to the limited evidence-based information found in the literature. Most therapeutic options have potential effectiveness as both monotherapy and as combination therapy. However, recent reports offer novel modalities that may approach scarring from different angles. PMID:20725565

  13. Atrial fibrillation in hypertrophic cardiomyopathy: mechanisms, embolic risk and prognosis.

    PubMed

    Nair, Ajith G; Fischer, Avi G

    2006-12-01

    Hypertrophic cardiomyopathy (HCM) is associated with an increased incidence of supraventricular and ventricular arrhythmias. Atrial fibrillation (AF) is the most common arrhythmia in HCM with a prevalence of 20% and an annual incidence of two percent per year. Increased left atrial size and volume along with impaired left atrial function confer an increased likelihood of AF. The onset of AF is often accompanied by a decrease in functional status in conjunction with an increased risk of stroke and overall mortality.

  14. Two Cases of Apical Ballooning Syndrome Masking Apical Hypertrophic Cardiomyopathy

    PubMed Central

    Roy, Ranjini Raina; Hakim, Fayaz A.; Hurst, R. Todd; Simper, David; Appleton, Christopher P.

    2014-01-01

    Apical akinesis and dilation in the absence of obstructive coronary artery disease is a typical feature of stress-induced (takotsubo) cardiomyopathy, whereas apical hypertrophy is seen in apical-variant hypertrophic cardiomyopathy. We report the cases of 2 patients who presented with takotsubo cardiomyopathy and were subsequently found to have apical-variant hypertrophic cardiomyopathy, after the apical ballooning from the takotsubo cardiomyopathy had resolved. The first patient, a 43-year-old woman with a history of alcohol abuse, presented with shortness of breath, electrocardiographic and echocardiographic features consistent with takotsubo cardiomyopathy, and no significant coronary artery disease. An echocardiogram 2 weeks later revealed a normal left ventricular ejection fraction and newly apparent apical hypertrophy. The 2nd patient, a 70-year-old woman with pancreatitis, presented with chest pain, apical akinesis, and a left ventricular ejection fraction of 0.39, consistent with takotsubo cardiomyopathy. One month later, her left ventricular ejection fraction was normal; however, hypertrophy of the left ventricular apex was newly noted. To our knowledge, these are the first reported cases in which apical-variant hypertrophic cardiomyopathy was masked by apical ballooning from stress-induced cardiomyopathy. PMID:24808780

  15. Cell specific dopamine modulation of the transient potassium current in the pyloric network by the canonical D1 receptor signal transduction cascade.

    PubMed

    Zhang, Hongmei; Rodgers, Edmund W; Krenz, Wulf-Dieter C; Clark, Merry C; Baro, Deborah J

    2010-08-01

    Dopamine (DA) modifies the motor pattern generated by the pyloric network in the stomatogastric ganglion (STG) of the spiny lobster, Panulirus interruptus, by directly acting on each of the circuit neurons. The 14 pyloric neurons fall into six cell types, and DA actions are cell type specific. The transient potassium current mediated by shal channels (I(A)) is a common target of DA modulation in most cell types. DA shifts the voltage dependence of I(A) in opposing directions in pyloric dilator (PD) versus lateral pyloric (LP) neurons. The mechanism(s) underpinning cell-type specific DA modulation of I(A) is unknown. DA receptors (DARs) can be classified as type 1 (D1R) or type 2 (D2R). D1Rs and D2Rs are known to increase and decrease intracellular cAMP concentrations, respectively. We hypothesized that the opposing DA effects on PD and LP I(A) were due to differences in DAR expression patterns. In the present study, we found that LP expressed somatodendritic D1Rs that were concentrated near synapses but did not express D2Rs. Consistently, DA modulation of LP I(A) was mediated by a Gs-adenylyl cyclase-cAMP-protein kinase A pathway. Additionally, we defined antagonists for lobster D1Rs (flupenthixol) and D2Rs (metoclopramide) in a heterologous expression system and showed that DA modulation of LP I(A) was blocked by flupenthixol but not by metoclopramide. We previously showed that PD neurons express D2Rs, but not D1Rs, thus supporting the idea that cell specific effects of DA on I(A) are due to differences in receptor expression.

  16. A Pyloric Gland-Phenotype Ovarian Mucinous Tumor Resembling Lobular Endocervical Glandular Hyperplasia in a Patient with Peutz-Jeghers Syndrome.

    PubMed

    Kim, Eun Na; Kim, Gu-Hwan; Kim, Jiyoon; Park, In Ah; Shin, Jin Ho; Chai, Yun; Kim, Kyu-Rae

    2017-03-01

    We describe an ovarian mucinous neoplasm that histologically resembles lobular endocervical glandular hyperplasia (LEGH) containing pyloric gland type mucin in a patient with Peutz-Jeghers syndrome (PJS). Although ovarian mucinous tumors rarely occur in PJS patients, their pyloric gland phenotype has not been clearly determined. The histopathologic features of the ovarian mucinous tumor were reminiscent of LEGH. The cytoplasmic mucin was stained with periodic acid-Schiff reaction after diastase treatment but was negative for Alcian blue pH 2.5, suggesting the presence of neutral mucin. Immunohistochemically, the epithelium expressed various gastric markers, including MUC6, HIK1083, and carbonic anhydrase-IX. Multiple ligation-dependent probe amplification detected a germline heterozygous deletion mutation at exons 1-7 of the STK11 gene (c.1-?_920+?del) in peripheral blood leukocytes and mosaic loss of heterozygosity in ovarian tumor tissue. Considering that LEGH and/or gastric-type cervical adenocarcinoma can be found in patients with PJS carrying germline and/or somatic STK11 mutations, our case indicates that STK11 mutations have an important role in the proliferation of pyloric-phenotype mucinous epithelium at various anatomical locations.

  17. Inhibition of ENNG-induced pyloric stomach and small intestinal carcinogenesis in mice by high temperature- and pressure-treated garlic.

    PubMed

    Kaneko, Takaaki; Shimpo, Kan; Chihara, Takeshi; Beppu, Hidehiko; Tomatsu, Akiko; Shinzato, Masanori; Yanagida, Takamasa; Ieike, Tsutomu; Sonoda, Shigeru; Futamura, Akihiko; Ito, Akihiro; Higashiguchi, Takashi

    2012-01-01

    High temperature- and pressure-treated garlic (HTPG) has been shown to have enhanced antioxidative activity and polyphenol contents. Previously, we reported that HTPG inhibited 1,2-dimethylhydrazine-induced mucin depleted foci (premalignant lesions) and O6-methylguanine DNA adduct formation in the rat colorectum. In the present study, we investigated the modifying effects of HTPG on N-ethyl-N'-nitro-N-nitrosoguanidine (ENNG)- induced pyloric stomach and small intestinal carcinogenesis in mice. Male C57BL/6 mice were given ENNG (100 mg/l) in drinking water for the first 4 weeks, then a basal diet or diet containing 2% or 5% HTPG for 30 weeks. The incidence and multiplicity of pyloric stomach and small intestinal (duodenal and jejunal) tumors in the 2% HTPG group (but not in the 5% HTPG group) were significantly lower than those in the control group. Cell proliferation of normal-appearing duodenal mucosa was assessed by MIB-5 immunohistochemistry and shown to be significantly lower with 2% HTPG (but again not 5% HTPG) than in controls. These results in dicate that HTPG, at 2% in the diet, inhibited ENNG-induced pyloric stomach and small intestinal (especially duodenal) tumorigenesis in mice, associated with suppression of cell proliferation.

  18. A Pyloric Gland-Phenotype Ovarian Mucinous Tumor Resembling Lobular Endocervical Glandular Hyperplasia in a Patient with Peutz-Jeghers Syndrome

    PubMed Central

    Kim, Eun Na; Kim, Gu-Hwan; Kim, Jiyoon; Park, In Ah; Shin, Jin Ho; Chai, Yun; Kim, Kyu-Rae

    2017-01-01

    We describe an ovarian mucinous neoplasm that histologically resembles lobular endocervical glandular hyperplasia (LEGH) containing pyloric gland type mucin in a patient with Peutz-Jeghers syndrome (PJS). Although ovarian mucinous tumors rarely occur in PJS patients, their pyloric gland phenotype has not been clearly determined. The histopathologic features of the ovarian mucinous tumor were reminiscent of LEGH. The cytoplasmic mucin was stained with periodic acid-Schiff reaction after diastase treatment but was negative for Alcian blue pH 2.5, suggesting the presence of neutral mucin. Immunohistochemically, the epithelium expressed various gastric markers, including MUC6, HIK1083, and carbonic anhydrase-IX. Multiple ligation-dependent probe amplification detected a germline heterozygous deletion mutation at exons 1–7 of the STK11 gene (c.1-?_920+?del) in peripheral blood leukocytes and mosaic loss of heterozygosity in ovarian tumor tissue. Considering that LEGH and/or gastric-type cervical adenocarcinoma can be found in patients with PJS carrying germline and/or somatic STK11 mutations, our case indicates that STK11 mutations have an important role in the proliferation of pyloric-phenotype mucinous epithelium at various anatomical locations. PMID:27550049

  19. Identification of two rare and novel large deletions in ITGB4 gene causing epidermolysis bullosa with pyloric atresia.

    PubMed

    Mencía, Ángeles; García, Marta; García, Eva; Llames, Sara; Charlesworth, Alexandra; de Lucas, Raúl; Vicente, Asunción; Trujillo-Tiebas, María José; Coto, Pablo; Costa, Marta; Vera, Ángel; López-Pestaña, Arantxa; Murillas, Rodolfo; Meneguzzi, Guerrino; Jorcano, José Luis; Conti, Claudio J; Escámez Toledano, María José; del Río Nechaevsky, Marcela

    2016-04-01

    Epidermolysis bullosa with pyloric atresia (EB-PA) is a rare autosomal recessive hereditary disease with a variable prognosis from lethal to very mild. EB-PA is classified into Simplex form (EBS-PA: OMIM #612138) and Junctional form (JEB-PA: OMIM #226730), and it is caused by mutations in ITGA6, ITGB4 and PLEC genes. We report the analysis of six patients with EB-PA, including two dizygotic twins. Skin immunofluorescence epitope mapping was performed followed by PCR and direct sequencing of the ITGB4 gene. Two of the patients presented with non-lethal EB-PA associated with missense ITGB4 gene mutations. For the other four, early postnatal demise was associated with complete lack of β4 integrin due to a variety of ITGB4 novel mutations (2 large deletions, 1 splice-site mutation and 3 missense mutations). One of the deletions spanned 278 bp, being one of the largest reported to date for this gene. Remarkably, we also found for the first time a founder effect for one novel mutation in the ITGB4 gene. We have identified 6 novel mutations in the ITGB4 gene to be added to the mutation database. Our results reveal genotype-phenotype correlations that contribute to the molecular understanding of this heterogeneous disease, a pivotal issue for prognosis and for the development of novel evidence-based therapeutic options for EB management.

  20. Histochemical evidences on the chronological alterations of the hypertrophic zone of mandibular condylar cartilage.

    PubMed

    Hossain, Kazi Sazzad; Amizuka, Norio; Ikeda, Nobuyki; Nozawa-Inoue, Kayoko; Suzuki, Akiko; Li, Minqi; Takeuchi, Kiichi; Aita, Megumi; Kawano, Yoshiro; Hoshino, Masaaki; Oda, Kimimitsu; Takagi, Ritsuo; Maeda, Takeyasu

    2005-08-15

    The hypertrophic chondrocytes lack the ability to proliferate, thus permitting matrix mineralization as well as vascular invasion from the bone in both the mandibular condyle and the epiphyseal cartilage. This study attempted to verify whether the histological appearance of the hypertrophic chondrocytes is in a steady state during postnatal development of the mouse mandibular condyle. Type X collagen immunohistochemistry apparently distinguished the fibrous layer described previously as the "articular zone," "articular layer," and "resting zone" from the hypertrophic zone. Interestingly, the ratio of the type X collagen-positive hypertrophic zone in the entire condyle seemed higher in the early stages but decreased in the later stages. Some apparently compacted cells in the hypertrophic zone showed proliferating cell nuclear antigen (PCNA) immunoreaction, indicating the potential for cell proliferation at the early stages. As the mice matured, in contrast, they further enlarged and assumed typical features of hypertrophic chondrocytes. Apoptotic cells were also discernible in the hypertrophic zone at the early but not later stages. Consistent with morphological configurations of hypertrophic chondrocytes, immunoreactions for alkaline phosphatase, osteopontin, and type I collagen were prominent at the later stage, but not the early stage. Cartilaginous matrices demonstrated scattered patches of mineralization at the early stage, but increased in their volume and connectivity at the later stage. Thus, the spatial and temporal occurrence of these immunoreactions as well as apoptosis likely reflect the prematurity of hypertrophying cells at the early stage, and imply a physiological relevance during the early development of the mandibular condyles.

  1. A Formula for Early Infantile Autism.

    ERIC Educational Resources Information Center

    Roy, M. Aaron

    Offered is an explanation for the development of early infantile autism as defined by L. Kanner which incorporates the behavior of the child, the behavior of the parent, and a critical time period of development. Writings of Kanner on the characteristics of autistic children, parental characteristics, and etiology are reviewed. The formula…

  2. Infantile Amnesia: Forgotten but Not Gone

    ERIC Educational Resources Information Center

    Li, Stella; Callaghan, Bridget L.; Richardson, Rick

    2014-01-01

    Unlike adult memories that can be remembered for many years, memories that are formed early in life are more fragile and susceptible to being forgotten (a phenomenon known as "infantile" or "childhood" amnesia). Nonetheless, decades of research in both humans and nonhuman animals demonstrate the importance of early life…

  3. Structural differences in epiphyseal and physeal hypertrophic chondrocytes

    PubMed Central

    Shapiro, Frederic; Flynn, Evelyn

    2015-01-01

    We have observed that epiphyseal and physeal hypertrophic chondrocytes in BALB/c mice show considerable differences of light microscopic and ultrastructural appearance, even when the cells are at the same stage of differentiation. In addition, cell structure maintenance improved with tissue preparation controlled for osmolarity and for membrane stabilization using 0.5% ruthenium hexammine trichloride (RHT) for both light microscopy (LM) and electron microscopy (EM) or 0.5% lanthanum nitrate for LM. Physeal hypertrophic chondrocytes showed a gradual increase in size closer to the metaphysis and a change in shape as cells elongated along the long axis. The nucleus remained central, with uniformly dispersed chromatin, and the rough endoplasmic reticulum (RER) was randomly dispersed throughout cytoplasm with little to no presence against the cell membrane. Even the lowermost cells showed thin elongated or dilated cisternae of RER and intact cell membranes. Epiphyseal chondrocytes remained circular to oval with no elongation. Nucleus and RER were positioned as a complete transcellular central nucleocytoplasmic column or as an incomplete bud with RER of the column/bud always continuous with RER peripherally against the intact cell membrane. RER was densely packed with parallel cisternae with adjacent cytoplasm empty of organelles but often filled with circular deposits of moderately electron-dense material consistent with fat. Optimal technique for LM involved fixation using glutaraldehyde (GA) 1.3%, paraformaldehyde (PFA) 1% and RHT 0.5% (mOsm 606) embedded in JB-4 plastic and stained with 0.5% toluidine blue. Optimal technique for EM used fixation with GA 1.3%, PFA 1%, RHT 0.5% and cacodylate buffer 0.03 M (mOsm 511) and post-fixation including 1% osmium tetroxide. These observations lead to the possibility that the same basic cell, the hypertrophic chondrocyte, has differing functional mechanisms at different regions of the developing bone. PMID:25987982

  4. Echocardiographic sign of right-sided hypertrophic obstructive cardiomyopathy.

    PubMed Central

    Cardiel, E A; Alonso, M; Delcan, J L; Menarguez, L

    1978-01-01

    The echocardiographic and haemodynamic findings with a patient with hypertrophic obstructive cardiomyopathy (HOCM) and dynamic subpulmonary stenosis, without left ventricular gradient, are described. The echocardiogram shows not only asymmetric septal hypertrophy, systolic anterior movement of the anterior mitral leaflet, and midsystolic collapse of the aortic valve, but also increase in the right ventricular wall echoes and systolic collapse of the pulmonary valve. We believe that in the absence of pulmonary hypertension these signs, particularly the systolic closing movement of the pulmonary valve cusp, may suggest right ventricular obstruction in HOCM. Images PMID:568930

  5. Effective Response of Methotrexate for Recurrent Idiopathic Hypertrophic Spinal Pachymeningitis

    PubMed Central

    Park, Tae Joon; Seo, Won Deok; Kim, Sang Young; Cho, Jae Hoon; Kim, Dae Hyun

    2016-01-01

    Idiopathic hypertrophic spinal pachymeningitis (IHSP) is a chronic progressive and diffuse inflammatory fibrosis of the spinal dura mater. Though treatment of IHSP is surgical decompression with steroid therapy, treatment for recurrent IHSP is controversial. Our patient was diagnosed with IHSP based on magnetic resonance imaging (MRI) and underwent laminectomy for decompression following steroid pulse therapy. Despite maintenance of steroid therapy, the patient experienced 3 recurrences. As an alternative immunosuppressant medication, methotrexate was introduced with low-dose steroid. Fortunately, the symptom was resolved, and a decrease of dura thickening was revealed on MRI. We present the case and suggest that methotrexate might be an effective treatment modality for recurrent IHSP. PMID:28127378

  6. Atrial fibrillation and hypertrophic cardiomyopathy: who to anticoagulate?

    PubMed

    Frontera, Antonio; Wilson, D G; Sekhon, H; Duncan, E R; Thomas, G

    2015-10-01

    Hypertrophic cardiomyopathy (HCM) is one of the most common genetic cardiac conditions. Atrial fibrillation (AF) has been demonstrated to be the most frequent arrhythmia encountered in HCM patients. Research focusing on AF and embolic stroke in HCM patients has been sparse and the sample size of most studies is small. The prognostic significance of AF in HCM patients is still not well known. The aim of this article is to provide further understanding of the anti-coagulation requirement of HCM patients with AF.

  7. Surgical Myectomy after Failed Ablation for Hypertrophic Obstructive Cardiomyopathy

    PubMed Central

    Bougioukas, Ioannis; Hoppe, Uta; Danner, Bernhard; Schoendube, Friedrich A.

    2016-01-01

    Background Hypertrophic cardiomyopathy is a genetic disease of the myocardial sarcolemma characterized by left ventricular hypertrophy. When obstruction to the left ventricular outflow tract is present and symptoms are refractory to medication, surgical myectomy or alcohol septal ablation is indicated. Case Description We report a case of a patient presented for myectomy due to recurrence only 1 year after alcohol ablation. Interesting findings were a firm subaortic membrane and a direct insertion of the papillary muscle into the mitral valve. Conclusion After myectomy and extensive papillary muscle mobilization, a significant relief of obstruction was achieved. PMID:28018818

  8. Radiotherapy for extreme hypertrophic pulmonary osteoarthropathy associated with malignancy.

    PubMed

    Yeo, W; Leung, S F; Chan, A T; Chiu, K W

    1996-01-01

    A patient with florid hypertrophic pulmonary osteoarthropathy (HPOA) associated with metastatic nasopharyngeal carcinoma is presented. Despite the presence of metastatic disease in the thorax and in bone, the patient's main symptom was severe pain from the HPOA, which was temporarily relieved by chemotherapy. Her disease subsequently progressed during chemotherapy and the pain became resistant to conventional treatment, including high dose morphine, non-steriodal anti-inflammatory agents and steriods. It was only with local radiation to the involved joints that the pain could be controlled. Our patient demonstrates that local radiotherapy is an option for the palliation of extreme HPOA.

  9. Hypertrophic cardiomyopathy in a mixed breed cat family.

    PubMed

    Nakagawa, Kiyoshi; Takemura, Naoyuki; Machida, Noboru; Kawamura, Masamichi; Amasaki, Hajime; Hirose, Hisashi

    2002-07-01

    A spayed female mixed cat (case 1) and its female offspring, the result of a pairing between case 1 and its male sibling, were diagnosed with hypertrophic cardiomyopathy (HCM). A pedigree survey revealed that the prevalence of HCM was at least 12.5% in the family, which was considered to be significantly higher than that in a hospital-based population (approximately 1.6%). Thus, this finding seems to support the suspected occurrence of familial HCM in this group of related cats.

  10. Percutaneous transluminal septal myocardial ablation in hypertrophic cardiomyopathy

    PubMed Central

    van der Lee, C.; Foley, D.P.; Vletter, W.B.; ten Cate, F.J.; Kofflard, M.J.M.

    2001-01-01

    Background Percutaneous transluminal septal myocardial ablation (PTSMA) is a new interventional technique to treat patients with hypertrophic cardiomyopathy. Methods Small doses of ethanol 96% were injected into a targeted septal artery causing a chemical myocardial infarction. Three patients were evaluated, including a follow-up of three months. Results There were no complications during the procedure LVOT gradient was reduced from 120±140 mmHg. At follow-up, all three patients showed improvement in validity. Conclusion The method requires an echocardiographic contrast determination of the myocardium at risk for ethanol treatment, in addition to haemodynamic monitoring. ImagesFigure 1Figure 2Figure 3A PMID:25696698

  11. Ehlers-Danlos Syndrome associated with cardiomyopathy hypertrophic obstructive.

    PubMed

    Pinto, Raimundo José Almeida de Oliveira; Santos, Adaílton Araújo dos; Azevedo, Mablo de Castro; Meira, Saulo Sacramento

    2015-01-01

    Ehlers-Danlos syndrome is a rare clinical condition caused by a genetic change that results in the formation of structurally or functionally altered collagen. The clinical manifestations are varied, being the most obvious skin hypermotility and increased joint flexibility, although other systems - such as cardiovascular, respiratory and neurological - may also be affected. This paper presents the report of a patient who sought medical attention with complaints of atypical chest pain. Clinical evaluation enabled hypothetical diagnosis of hypertrophic obstructive cardiomyopathy and Ehlers-Danlos syndrome. Initial electrocardiogram, echocardiogram and 24 hours holter allowed the confirmation of the first hypothesis. A skin biopsy performed later associated clinical data and confirmed the second hypothesis.

  12. Metal-sensitive and thermostable trypsin from the crevalle jack (Caranx hippos) pyloric caeca: purification and characterization

    PubMed Central

    2013-01-01

    Background Over the past decades, the economic development and world population growth has led to increased for food demand. Increasing the fish production is considered one of the alternatives to meet the increased food demand, but the processing of fish leads to by-products such as skin, bones and viscera, a source of environmental contamination. Fish viscera have been reported as an important source of digestive proteases with interesting characteristics for biotechnological processes. Thus, the aim of this study was to purify and to characterize a trypsin from the processing by-products of crevalle jack (Caranx hippos) fish. Results A 27.5 kDa trypsin with N-terminal amino acid sequence IVGGFECTPHVFAYQ was easily purified from the pyloric caeca of the crevalle jack. Its physicochemical and kinetic properties were evaluated using N-α-benzoyl-DL-arginine-p-nitroanilide (BApNA) as substrate. In addition, the effects of various metal ions and specific protease inhibitors on trypsin activity were determined. Optimum pH and temperature were 8.0 and 50°C, respectively. After incubation at 50°C for 30 min the enzyme lost only 20% of its activity. K m , k cat, and k cat /K m values using BApNA as substrate were 0.689 mM, 6.9 s-1, and 10 s-1 mM-1, respectively. High inhibition of trypsin activity was observed after incubation with Cd2+, Al3+, Zn2+, Cu2+, Pb2+, and Hg2+ at 1 mM, revealing high sensitivity of the enzyme to metal ions. Conclusions Extraction of a thermostable trypsin from by-products of the fishery industry confirms the potential of these materials as an alternative source of these biomolecules. Furthermore, the results suggest that this trypsin-like enzyme presents interesting biotechnological properties for industrial applications. PMID:24112762

  13. Kinetic properties of three isoforms of trypsin isolated from the pyloric caeca of chum salmon (Oncorhynchus keta).

    PubMed

    Toyota, Eiko; Iyaguchi, Daisuke; Sekizaki, Haruo; Itoh, Kunihiko; Tanizawa, Kazutaka

    2007-09-01

    Three isoforms of anionic chum salmon trypsin (ST-1, ST-2, and ST-3) were purified from the pyloric caeca of chum salmon (Oncorhynchus keta). The molecular weights of the three isoforms were about 24 kDa as determined by SDS-PAGE. The isoelectric points of ST-1, ST-2, and ST-3 were 5.8, 5.4, and 5.6, respectively. The apparent K(m) values of two isoforms (ST-1 and ST-2) for BAPA (benzoyl-L-arginine-p-nitroanilide) hydrolysis at 5, 15, 25 and 35 degrees C were slightly higher than that of the main isoform ST-3, depending on temperature. The turnover numbers, k(cat), of ST-1 and ST-2 were about twice as high as that of ST-3. Consequently, the catalytic efficiencies (k(cat)/K(m)) of ST-1 and ST-2 were more efficient than ST-3. There were marked differences in both apparent K(m) and k(cat) values of three anionic chum salmon trypsins as compared to bovine cationic trypsin. K(m) values of all chum salmon trypsins were approximately 10 times lower than those of bovine trypsin, depending on the temperature. The k(cat) values of all chum salmon trypsins were about 2- to 5-fold higher than those of bovine trypsin; therefore, the catalytic efficiencies (k(cat)/K(m)) of chum salmon trypsin were 20- to 40-fold more efficient than those of bovine trypsin. On the other hand, k(cat)/K(m) values of ST-1 for TAME (tosyl-L-arginine methyl ester) hydrolysis were lower than those of bovine trypsin, whereas k(cat)/K(m) values of ST-2 and ST-3 were comparable to those of bovine trypsin, depending on the temperature.

  14. Serotonin transduction cascades mediate variable changes in pyloric network cycle frequency in response to the same modulatory challenge.

    PubMed

    Spitzer, Nadja; Cymbalyuk, Gennady; Zhang, Hongmei; Edwards, Donald H; Baro, Deborah J

    2008-06-01

    A fundamental question in systems biology addresses the issue of how flexibility is built into modulatory networks such that they can produce context-dependent responses. Here we examine flexibility in the serotonin (5-HT) response system that modulates the cycle frequency (cf) of a rhythmic motor output. We found that depending on the preparation, the same 5-min bath application of 5-HT to the pyloric network of the California spiny lobster, Panulirus interruptus, could produce a significant increase, decrease, or no change in steady-state cf relative to baseline. Interestingly, the mean circuit output was not significantly different among preparations prior to 5-HT application. We developed pharmacological tools to examine the preparation-to-preparation variability in the components of the 5-HT response system. We found that the 5-HT response system consisted of at least three separable components: a 5-HT(2betaPan)-like component mediated a rapid decrease followed by a sustained increase in cf; a 5-HT(1alphaPan)-like component produced a small and usually gradual increase in cf; at least one other component associated with an unknown receptor mediated a sustained decrease in cf. The magnitude of the change in cf produced by each component was highly variable, so that when summed they could produce either a net increase, decrease, or no change in cf depending on the preparation. Overall, our research demonstrates that the balance of opposing components of the 5-HT response system determines the direction and magnitude of 5-HT-induced change in steady-state cf relative to baseline.

  15. The genetic basis of hypertrophic cardiomyopathy in cats and humans.

    PubMed

    Kittleson, Mark D; Meurs, Kathryn M; Harris, Samantha P

    2015-12-01

    Mutations in genes that encode for muscle sarcomeric proteins have been identified in humans and two breeds of domestic cats with hypertrophic cardiomyopathy (HCM). This article reviews the history, genetics, and pathogenesis of HCM in the two species in order to give veterinarians a perspective on the genetics of HCM. Hypertrophic cardiomyopathy in people is a genetic disease that has been called a disease of the sarcomere because the preponderance of mutations identified that cause HCM are in genes that encode for sarcomeric proteins (Maron and Maron, 2013). Sarcomeres are the basic contractile units of muscle and thus sarcomeric proteins are responsible for the strength, speed, and extent of muscle contraction. In people with HCM, the two most common genes affected by HCM mutations are the myosin heavy chain gene (MYH7), the gene that encodes for the motor protein β-myosin heavy chain (the sarcomeric protein that splits ATP to generate force), and the cardiac myosin binding protein-C gene (MYBPC3), a gene that encodes for the closely related structural and regulatory protein, cardiac myosin binding protein-C (cMyBP-C). To date, the two mutations linked to HCM in domestic cats (one each in Maine Coon and Ragdoll breeds) also occur in MYBPC3 (Meurs et al., 2005, 2007). This is a review of the genetics of HCM in both humans and domestic cats that focuses on the aspects of human genetics that are germane to veterinarians and on all aspects of feline HCM genetics.

  16. Subaortic and midventricular obstructive hypertrophic cardiomyopathy with extreme segmental hypertrophy

    PubMed Central

    Efthimiadis, Georgios K; Giannakoulas, Georgios; Parcharidou, Despina G; Ziakas, Antonios G; Papadopoulos, Christodoulos E; Karoulas, Takis; Pliakos, Christodoulos; Parcharidis, Georgios

    2007-01-01

    Background Subaortic and midventricular hypertrophic cardiomyopathy in a patient with extreme segmental hypertrophy exceeding the usual maximum wall thickness reported in the literature is a rare phenomenon. Case Presentation A 19-year-old man with recently diagnosed hypertrophic cardiomyopathy (HCM) was referred for sudden death risk assessment. The patient had mild exertional dyspnea (New York Heart Association functional class II), but without syncope or chest pain. There was no family history of HCM or sudden death. A two dimensional echocardiogram revealed an asymmetric type of LV hypertrophy; anterior ventricular septum = 49 mm; posterior ventricular septum = 20 mm; anterolateral free wall = 12 mm; and posterior free wall = 6 mm. The patient had 2 types of obstruction; a LV outflow obstruction due to systolic anterior motion of both mitral leaflets (Doppler-estimated 38 mm Hg gradient at rest); and a midventricular obstruction (Doppler-estimated 43 mm Hg gradient), but without apical aneurysm or dyskinesia. The patient had a normal blood pressure response on exercise test and no episodes of non-sustained ventricular tachycardia in 24-h ECG recording. Cardiac MRI showed a gross late enhancement at the hypertrophied septum. Based on the extreme degree of LV hypertrophy and the myocardial hyperenhancement, an implantation of a cardioverter-defibrillator was recommended prophylactically for primary prevention of sudden death. Conclusion Midventricular HCM is an infrequent phenotype, but may be associated with an apical aneurysm and progression to systolic dysfunction (end-stage HCM). PMID:17349063

  17. ANCA-Associated Systemic Vasculitis Presenting With Hypertrophic Spinal Pachymeningitis

    PubMed Central

    Li, Xia; Zhao, Jiuliang; Wang, Qian; Fei, Yunyun; Zhao, Yan

    2015-01-01

    Abstract Reports of hypertrophic pachymeningitis associated with myeloperoxidase-antineutrophil cytoplasmic antibody (MPO-ANCA) localized exclusively in the spine were quite rare. Two cases of ANCA-associated systemic vasculitis (AASV) presenting with hypertrophic spinal pachymeningitis (HSP) causing low back pain and numbness are described. Two patients showed prominent systemic and local inflammatory reactions manifested as fever, elevated levels of erythrocyte sedimentation rate and C-reactive protein, and markedly increased levels of total protein of cerebrospinal fluid. The gadolinium (Gd)-enhanced T1-weighted magnetic resonance imaging scan of spinal cord demonstrated diffuse spinal dura matter thickening. Additionally, simple microscopic hematuria was found in 1 case suggestive of renal involvement and the other 1 complicated with interstitial lung disease. Then, a diagnosis of HSP secondary to AASV was made. Combination therapy of corticosteroids and cyclophosphamide produced a rapid improvement in the clinical symptoms and laboratory parameters. Followed up for 6 months, 1 case relapsed when the dosage of prednisone was tapered to 10 mg daily. Since the patient refused rituximab-based regimen, an immunosuppressive triple-therapy (corticosteroid, cyclophosphamide, and azathioprine) was initiated and brought control of the disease during the subsequent 6 months of follow-up. HSP is a relatively rare form of central nervous system involvement of AASV. Early recognition and intervention are of great significance since the pathogenesis of HSP starts with an inflammatory and fibrosing process. PMID:26579814

  18. Cranial and lumbosacral hypertrophic pachymeningitis associated with systemic lupus erythematosus

    PubMed Central

    Han, Fei; Zhong, Ding-Rong; Hao, Hong-Lin; Kong, Wei-Ze; Zhu, Yi-Cheng; Guan, Hong-Zhi; Cui, Li-Ying

    2016-01-01

    Abstract Background: Hypertrophic pachymeningitis (HP) is a chronic disease characterized by inflammatory hypertrophy and fibrosis of dura mater. It can be divided into cranial and spinal forms depending on the location of the lesion. HP involving 2 separate sites simultaneously is quite uncommon. Case summary: This study presents a case of a 49-year-old woman with pathologically confirmed cranial and lumbosacral hypertrophic pachymeningitis associated with systemic lupus erythematosus (SLE), which is a rare etiology of HP. She experienced persistent numbness and pain of the left lower limb, followed by headache and seizures. In laboratory tests, levels of erythrocyte sedimentation rate and C-reactive protein were elevated, and antinuclear antibodies and anti–double-strand deoxyribonucleic acid (DNA) antibodies were detected. Magnetic resonance imaging revealed dural thickening with homogenous gadolinium enhancement both at lumbosacral level and over cerebral convexities. Histology suggested chronic inflammation in spinal dura mater with extensive fibrosis, dense lymphoplasmacytic infiltrate, and focal vasculitis. Treatment with corticosteroids and cyclophosphamide was started with significant clinical and radiological improvement. Conclusion: HP is etiologically heterogeneous. Despite its rarity, SLE should be considered in the differential diagnosis of HP. Early recognition and therapy may provide an optimal outcome. PMID:27684799

  19. Reversible transition from a hypertrophic to a dilated cardiomyopathy

    PubMed Central

    Spillmann, Frank; Kühl, Uwe; Van Linthout, Sophie; Dominguez, Fernando; Escher, Felicitas; Schultheiss, Heinz‐Peter; Pieske, Burkert

    2015-01-01

    Abstract We report the case of a 17‐year‐old female patient with known hypertrophic cardiomyopathy and a Wolff‐Parkinson‐White syndrome. She came to our department for further evaluation of a new diagnosed dilated cardiomyopathy characterized by an enlargement of the left ventricle and a fall in ejection fraction. Clinically, she complained about atypical chest pain, arrhythmic episodes with presyncopal events, and dyspnea (NYHA III) during the last 6 months. Non‐invasive and invasive examinations including magnetic resonance imaging, electrophysiological examinations, and angiography did not lead to a conclusive diagnosis. Therefore, endomyocardial biopsies (EMBs) were taken to investigate whether a specific myocardial disease caused the impairment of the left ventricular function. EMB analysis resulted in the diagnosis of a virus‐negative, active myocarditis. Based on this diagnosis, an immunosuppressive treatment with prednisolone and azathioprine was started, which led to an improvement of cardiac function and symptoms within 3 months after initiating therapy. In conclusion, we show that external stress triggered by myocarditis can induce a reversible transition from a hypertrophic cardiomyopathy to a dilated cardiomyopathy phenotype. This case strongly underlines the need for a thorough and invasive examination of heart failure of unknown causes, including EMB investigations as recommend by the actual ESC position statement. PMID:27774273

  20. Anesthetic Practices for Laser Rehabilitation of Pediatric Hypertrophic Burn Scars.

    PubMed

    Wong, Brendan M; Keilman, Jeffrey; Zuccaro, Jennifer; Kelly, Charis; Maynes, Jason T; Fish, Joel S

    The use of ablative fractional carbon dioxide laser therapy and pulsed dye laser therapy has led to significant improvements in the rehabilitation of hypertrophic burn scars. However, laser procedures are associated with appreciable pain among pediatric patients. Clinical consensus suggests using general anesthesia for pediatric laser procedures; however, guidelines for perioperative care are lacking. The objective of this quality improvement study is to determine whether a difference exists in postoperative pain outcomes in pediatric patients who receive intraoperative opioid regimens compared with patients who receive opioid-sparing regimens for laser therapy of hypertrophic burn scars. A retrospective review of patients who received laser therapy at a pediatric burn center from April 2014 to May 2015 was performed. Overall, 88 of the 92 procedures reviewed were included. A statistically significant difference was not found between the likelihood of postoperative pain when intraoperative opioid regimens (n = 63) were given compared with opioid-sparing regimens (n = 25) X (1, n = 88) = 2.870, P = .0902. There was also no difference between short-acting (n = 48), long-acting (n = 9), or combination (n = 6) intraoperative opioids compared with opioid-sparing regimens (n = 25) in the likelihood of postoperative pain. Despite the small sample size, the low number of postoperative pain cases is encouraging. Ultimately, these data provide a foundation for developing anesthetic guidelines for pediatric laser procedures. Specifically, clinicians should consider the potential to deliver adequate perioperative care via an opioid-sparing regimen ± adjuvant.

  1. Low-dose propranolol for infantile haemangioma.

    PubMed

    Tan, Swee T; Itinteang, Tinte; Leadbitter, Philip

    2011-03-01

    In 2008, propranolol was serendipitously observed to cause accelerated involution of infantile haemangioma. However, the mechanism by which it causes this dramatic effect is unknown, the dosage empirical and the optimal duration of treatment unexplored. This study determines the minimal dosage and duration of propranolol treatment to achieve accelerated involution of problematic infantile haemangioma. Consecutive patients with problematic proliferating infantile haemangioma treated with propranolol were culled from our prospective vascular anomalies database. The patients were initially managed as inpatients and commenced on propranolol at 0.25 mg kg(-1) twice daily, and closely monitored. The dosage was increased to 0.5 mg kg(-1) twice daily after 24 h, if there was no cardiovascular or metabolic side effect. The dosage was increased further by 0.5 mg kg(-1) day(-1) until a visible effect was noticed or up to a maximum of 2 mg kg(-1) day(-1), and was maintained until the lesion had fully involuted or the child was 12-months old. A total of 15 patients aged 3 weeks to 8.5 months (mean, 11 weeks) underwent propranolol treatment for problematic proliferating infantile haemangioma, which threatened life (n=1) or vision (n=2) or nasal obstruction (n=3) and/or caused ulceration (n=6) and/or bleeding (n=2) and/or significant tissue distortion (n=12). The minimal dosage required to achieve accelerated involution was 1.5-2.0 mg kg(-1) day(-1). Rebound growth occurred in the first patient when the dose was withdrawn at 7.5 months of age requiring reinstitution of treatment. No rebound growth was observed in the remaining patients. No other complications were observed. Propranolol at 1.5-2.0 mg kg(-1) day(-1), administered in divided doses with gradual increase in the dose, is effective and safe for treating problematic proliferating infantile haemangioma in our cohort of patients. Treatment should be maintained until the lesion is completely involuted or the child is 12

  2. Infantile methemoglobinemia: reexamining the role of drinking water nitrates.

    PubMed

    Avery, A A

    1999-07-01

    Ingestion of nitrates in drinking water has long been thought to be a primary cause of acquired infantile methemoglobinemia, often called blue baby syndrome. However, recent research and a review of historical cases offer a more complex picture of the causes of infantile methemoglobinemia. Gastrointestinal infection and inflammation and the ensuing overproduction of nitric oxide may be the cause of many cases of infantile methemoglobinemia previously attributed to drinking water nitrates. If so, current limits on allowable levels of nitrates in drinking water, which are based solely on the health threat of infantile methemoglobinemia, may be unnecessarily strict.

  3. [Giant infantile hepatic hemangioma: which therapeutic options?].

    PubMed

    Gonçalves, Cristina; Lobo, Luisa; Anjos, Rui; Salgueiro, Carlos; Lopes, Ana Isabel

    2013-01-01

    Infantile hepatic hemangioma is the third most frequent liver tumor in children and the most common below 6 months of age. Therapeutic options depend on clinical manifestations and should be tailored on an individual patient basis. We present the case of a 4 year old boy with neonatal diagnosis of large vascularized liver tumor with imagiological criteria of infantile hepatic hemangioma. We highlight the occurrence of heart failure and Kasabach-Merrit syndrome (thrombocytopenia, anemia) that have spontaneously regressed. During follow up, sequential imaging (ultrasound with Doppler, magnetic resonance imaging, dynamic contrast enhancement computed tomography) confirmed the hypothesis of IHH, allowing vascular mapping of the lesion. From the first year on, we observed a favorable course with progressive tumor regression. In the present case, a conservative approach has been maintained, but the best therapeutic option remains unclear. We highlight the specific features of this case, discussing the most cost-effective approach.

  4. The hazards of honey: infantile botulism.

    PubMed

    Smith, Jennifer K; Burns, Sarah; Cunningham, Steve; Freeman, Julie; McLellan, Ailsa; McWilliam, Kenneth

    2010-09-29

    Infantile botulism is a rare cause of neuromuscular weakness resulting from ingestion of Clostridium botulinum-an anaerobic Gram-positive bacillus found universally in soil. The only definite food source known to cause infantile botulism is honey; previously, links to formula milk have been postulated but not definitely sourced. We present an interesting case report of a 2-month-old infant with this rare condition, including the diagnostic difficulties that ensued. A brief overview of the condition follows. This is the first case in the UK in which C botulinum was successfully isolated from both the patient and the suspected source-a jar of honey. The importance of food labelling as a public health message is highlighted.

  5. Cardiac sarcoid: a chameleon masquerading as hypertrophic cardiomyopathy and dilated cardiomyopathy in the same patient.

    PubMed

    Agarwal, Anushree; Sulemanjee, Nasir Z; Cheema, Omar; Downey, Francis X; Tajik, A Jamil

    2014-05-01

    Sarcoidosis is a multisystem, granulomatous disease of unknown etiology often seen in young adults, with cardiac involvement in more than one-quarter of sarcoid patients. The clinical presentation of cardiac sarcoid depends upon the location and extent of myocardium involved. Although cardiac sarcoid may produce asymmetrical septal hypertrophy, it is most commonly considered in the differential diagnosis of dilated cardiomyopathy. The hypertrophic stage of cardiac sarcoid is rarely seen. We describe a case of cardiac sarcoid in a young patient wherein a distinctive appearance of the cardiac sarcoid spectrum from "hypertrophic" stage to thinned/scarred stage, masquerading as hypertrophic cardiomyopathy followed by dilated cardiomyopathy, is demonstrated.

  6. Down Syndrome with Complete Atrioventricular Septal Defect, Hypertrophic Cardiomyopathy, and Pulmonary Vein Stenosis.

    PubMed

    Mahadevaiah, Guruprasad; Gupta, Manoj; Ashwath, Ravi

    2015-10-01

    The prevalence of congenital heart disease in infants with Down syndrome is 40%, compared with 0.3% in children who have normal chromosomes. Atrioventricular and ventricular septal defects are often associated with chromosomal aberrations, such as in trisomy 21, whereas hypertrophic cardiomyopathy is chiefly thought to be secondary to specific gene mutations. We found only one reported case of congenital hypertrophic cardiomyopathy and atrioventricular septal defect in an infant with Down syndrome. Here, we report atrioventricular septal defect, hypertrophic cardiomyopathy, and pulmonary vein stenosis in a neonate with Down syndrome-an apparently unique combination. In addition, we discuss the relevant medical literature.

  7. An Unusual Type of Localized Hypertrophic Cardiomyopathy With Wolf Parkinson White Syndrome Presenting With Pulmonary Edema

    PubMed Central

    Vatan, Mehmet Bulent; Gunduz, Huseyin; Gurel, Safiye; Kocayigit, Ibrahim; Vural, Ahmet; Demirtas, Saadet; Cakar, Mehmet Akif; Gunduz, Yasemin

    2012-01-01

    Hypertrophic cardiomyopathy (HCM) is an autosomal dominant heart disease that is the most common genetic cardiac disorder. The disease is characterized by excessive thickening of the left ventricular myocardium. The anterior portion of the interventricular ventricular septum is often involved. Asymmetric hypertrophy of apical site, left ventricular free wall, and right ventricle are less common in hypertrophic cardiomyopathy that occur in 1% cases. We report a case of a patient with an unusual type of hypertrophic cardiomyopathy and Wolf Parkinson White (WPW) presenting with pulmonary edema.

  8. The "infantilization" of a cichlid fish.

    PubMed

    Shaw, E; Innes, K

    1980-03-01

    This paper reports a rather remarkable phenomenon, which we have termed "infantilization." Young acaras, 7 to 17 days postspawning age and normally freely swimming, will resume their nesting phase when placed with foster parents' brooding embryos or wrigglers. The foster parents do not eat these alien young when the young assume a behavior pattern similar to that of their own brood, namely, nest-bound and quiescent.

  9. Infantile Hemangioendothelioma of the Parotid Gland

    PubMed Central

    Chaubal, Rajas; Tavri, Om; Sawant, Atul; Singh, Chitrangada

    2017-01-01

    A 4-month-old infant presented with a painless swelling overlying the left angle of mandible. Ultrasound and magnetic resonance imaging (MRI) revealed a large lesion replacing the entire left parotid gland, with multiple enlarged vessels. Homogeneous enhancement of the lesion was seen on the postcontrast MRI scans. Based on the imaging features, a diagnosis of infantile hemangioendothelioma of the parotid gland was offered. This helped in avoiding any further invasive testing. PMID:28217408

  10. Hearing Profile in Patients with Dilated and Hypertrophic Cardiomyopathies

    PubMed Central

    El-Zarea, Gehan Abd El-Rahman; Hassan, Yasser Elsayed Mohamed; Mahmoud, Ahmed Mohamed Ahmed

    2016-01-01

    Introduction Cardiomyopathy may cause disruptions in the micro-vascular system of the stria vascularis in the cochlea, and, subsequently, may result in cochlear degeneration. Degeneration in the stria vascularis affects the physical and chemical processes in the organ of Corti, thereby causing a possible hearing impairment. The objective of this study was to assess the hearing profiles of patients with dilated and hypertrophic cardiomyopathies to determine the relationship between the degree of hearing loss and the degree and duration of the disease and to compare the dilated and hypertrophic cardiomyopathies as regards hearing profile. Methods In this case control study, we studied 21 patients (cases/study group/group 1) and 15 healthy individuals (controls/group 2). Six patients (group 1a) had hypertrophic cardiomyopathy (HCM), and 15 patients (group 1b) had dilated cardiomyopathy (DCM). The data were analyzed using the t-test, chi-squared test, Kruskal-Wallis test, and the Multiple Mann-Whitney test. Results The results of this study showed that 80% of those patients with DCM (group 1b) had bilateral sensorineural hearing loss (SNHL), and 100% of the patients with HCM (group 1a) had mild to severe bilateral sloping SNHL. Distortion Product Otoacoustic Emissions (DPOAEs) were present in 14% of the study group and in 100 % of the control group. The results of the measurements of auditory brainstem response (ABR) showed that 50% of the study group had abnormal latencies compared to the control group, and there was no correlation between the duration of the disease and the degree of hearing loss or DPOAE. Fifty percent of the patients with HCM and 35% of the patients with DCM had positive family histories of similar conditions, and 35% of those with HCM had a positive family history of sudden death. Conclusion The results of this study suggested that the link between heart disease and hearing loss and early identification of hearing loss in patients with

  11. The infantile in the analytic relationship.

    PubMed

    Guignard, F

    1995-12-01

    The author examines the narcissistic and relational aspects of the preconscious functioning of the analytic couple in order to bring out the drive-related, developmental and structural elements of the infantile in their relationship. She considers that any disruption of the specific tone of an analysis indicates a change in the level of drive excitation, which is experienced unconsciously in the transference and countertransference as the loss of a significant internal object and gives rise to a representational deficiency. Where this is due to the impact of the infantile-in-the-patient on his own preconscious, the analyst suffers a blind spot. As long as he can desist from using 'blocking representations', the effect will be to repress the unrepresented wish and at the same time to create a framing and containing preform beneficial to the treatment. In the author's view, the analyst deals with his blind spot by a 'work of the negative' à la André Green, through denial of his fantasy of seduction by the infantile omnipotence of the analysand. This model can also be used to investigate the termination criteria of the analyst's own analysis and the economic situation of repression in the psychoanalyst's work.

  12. Hypertrophic Osteoarthropathy in Patient with Crohn's Disease: A Case Report

    PubMed Central

    Rhee, Sung-Min; Park, Ki Jeong

    2014-01-01

    Numerous causes of hypertrophic osteoarthropathy (HOA) have been reported. Commonly, secondary osteoarthropathy accompanies pulmonary diseases such as carcinoma of the lung, pleural tumors, lung abscesses, and bronchiectasis. However, HOA in inflammatory bowel disease is a rare complication. There are only a few reports of secondary HOA with Crohn's disease. Our purpose was to report another case of HOA in Crohn's disease. We describe a case of a 27-year-old man with underlying Crohn's disease presenting with 2 years of pain in multiple joints. Radiographic findings suggested HOA in extremities. We performed a conservative treatment including medication and rehabilitations. The patient's symptoms were much improved at the latest follow-up. Although numerous studies on HOA have been published, the pathogenesis of HOA is still unclear. Various treatment modalities were recommended but further studies to uncover the pathogenesis of HOA with Crohn's disease and to establish a treatment modality are needed. PMID:25025001

  13. Ehlers-Danlos Syndrome associated with cardiomyopathy hypertrophic obstructive*

    PubMed Central

    Pinto, Raimundo José Almeida de Oliveira; dos Santos, Adaílton Araújo; Azevedo, Mablo de Castro; Meira, Saulo Sacramento

    2015-01-01

    Ehlers-Danlos syndrome is a rare clinical condition caused by a genetic change that results in the formation of structurally or functionally altered collagen. The clinical manifestations are varied, being the most obvious skin hypermotility and increased joint flexibility, although other systems - such as cardiovascular, respiratory and neurological - may also be affected. This paper presents the report of a patient who sought medical attention with complaints of atypical chest pain. Clinical evaluation enabled hypothetical diagnosis of hypertrophic obstructive cardiomyopathy and Ehlers-Danlos syndrome. Initial electrocardiogram, echocardiogram and 24 hours holter allowed the confirmation of the first hypothesis. A skin biopsy performed later associated clinical data and confirmed the second hypothesis. PMID:26312722

  14. Fabry Disease Presenting with Hypertrophic Cardiomyopathy and Tricuspid Regurgitation

    PubMed Central

    Cho, Sang-Cheol; Yoo, Han-Wook; Lee, Jae Won; Jang, Jeong Yoon; Heo, Ran

    2016-01-01

    A 71-year-old female who was diagnosed with nonobstructive hypertrophic cardiomyopathy since 1999 presented with dyspnea and severe edema on both legs. For the management of her symptom, cardiac surgery including tricuspid annuloplasty, Maze operation and right atrial reduction plasty was performed. During follow-up after cardiac surgery, a plasma α-galactosidase activity was checked for the screening of Fabry disease and the result was around lower normal limit. DNA analysis was implemented for confirmation and it revealed a heterozygote α-galactosidase mutation at exon 6 [c.901C>T (p.Arg301Ter)]. This case suggests that Fabry disease might be easily undetected, and clinical suspicion is critical. PMID:28090261

  15. Hypertrophic cardiomyopathy and ultra-endurance running - two incompatible entities?

    PubMed Central

    2011-01-01

    Regular and prolonged exercise is associated with increased left ventricular wall thickness that can overlap with hypertrophic cardiomyopathy (HCM). Differentiating physiological from pathological hypertrophy has important implications, since HCM is the commonest cause of exercise-related sudden cardiac death in young individuals. Most deaths have been reported in intermittent 'start-stop' sports such as football (soccer) and basketball. The theory is that individuals with HCM are unable to augment stroke volume sufficiently to meet the demands of endurance sports and are accordingly 'selected-out' of participation in such events. We report the case of an ultra-endurance athlete with 25 years of > 50 km competitive running experience, with genetically confirmed HCM; thereby demonstrating that these can be two compatible entities. PMID:22122802

  16. [A case of localized hypertrophic neuropathy in the sciatic nerve].

    PubMed

    Izumi, T; Kusaka, H; Imai, T

    1995-01-01

    A 26-year-old male patient gradually developed muscular atrophy of the right lower leg over a two-year period. Neurological examination revealed absent Achilles tendon reflex and muscular atrophy of the right lower leg and right hamstring muscles. Conduction velocity of the F waves was delayed in the right posterior tibial nerve. A computerized tomography scan and magnetic resonance imaging revealed a mass lesion along the proximal segment of the right sciatic nerve. Exploration revealed a fusiformly swollen sciatic nerve. Histological examination showed that a swollen segment of the sciatic nerve was filled with onion-bulb formations of perineurial cells, consistent with the diagnosis of localized hypertrophic neuropathy. This condition should be added to several etiologies of monomelic amyotrophy. Electrophysiological studies and neuroimaging techniques were useful in obtaining differential diagnosis.

  17. Hypertrophic cardiomyopathy: a heart in need of an energy bar?

    PubMed Central

    Vakrou, Styliani; Abraham, M. Roselle

    2014-01-01

    Hypertrophic cardiomyopathy (HCM) has been recently recognized as the most common inherited cardiovascular disorder, affecting 1 in 500 adults worldwide. HCM is characterized by myocyte hypertrophy resulting in thickening of the ventricular wall, myocyte disarray, interstitial and/or replacement fibrosis, decreased ventricular cavity volume and diastolic dysfunction. HCM is also the most common cause of sudden death in the young. A large proportion of patients diagnosed with HCM have mutations in sarcomeric proteins. However, it is unclear how these mutations lead to the cardiac phenotype, which is variable even in patients carrying the same causal mutation. Abnormalities in calcium cycling, oxidative stress, mitochondrial dysfunction and energetic deficiency have been described constituting the basis of therapies in experimental models of HCM and HCM patients. This review focuses on evidence supporting the role of cellular metabolism and mitochondria in HCM. PMID:25191275

  18. [Cause and prevention of surgical site infection and hypertrophic scars].

    PubMed

    Ogawa, Rei

    2012-03-01

    Surgical site infection (SSI) occurs at the site of surgery within 1 month of an operation or within 1 year of an operation if a foreign body is implanted as part of the surgery. Most SSIs (about 70%) are superficial infections involving the skin and subcutaneous tissues only. The remaining infections are more serious and can involve tissues under the skin, organs, or implanted material. Hypertrophic scars( HSs) occur frequently on particular sites, including the anterior chest wall. The anterior chest wall is frequently subjected to skin stretching caused by the natural daily movements of the body. Most cases of SSIs and HSs can be prevented by (1) suture technique modification to prevent high stretching tension and ischemia, and (2) appropriate wound care after surgery. It would be useful to avoid subjecting wounded skin to sustained mechanical force, thereby permitting the wound to rest and heal normally.

  19. Surgery Management of Rare Hypertrophic Frenum in an Infant

    PubMed Central

    Stroppa, Sheila de Carvalho; da Silva, Juliana Yassue Barbosa; Tavares, Maria Cristina Reis; Duda, João Gilberto; Losso, Estela Maris

    2014-01-01

    To report a rare case of a lateral frenum hypertrophy in an infant, this paper describes the case of a girl who came to a first dental appointment when she was 4 months old. A hypertrophic lateral frenum in the upper left canine region was detected. A great depression in the gingival rodet separated the anterior maxillary segment from the posterior one and also decreased the lip mobility in this region. A frenectomy was performed when the patient was 11 months old and the clinical follow-up was done up to the age of 30 months. There was normalization in the vestibular insertion of the lateral frenum, lip mobility, physiological development of the maxilla, and eruption of the upper incisors, canines, and first primary molars. Infants should go to a dental examination precociously in order to detect possible congenital and development alterations. PMID:25180104

  20. Surgery management of rare hypertrophic frenum in an infant.

    PubMed

    Stroppa, Sheila de Carvalho; da Silva, Juliana Yassue Barbosa; Tavares, Maria Cristina Reis; Duda, João Gilberto; Losso, Estela Maris

    2014-01-01

    To report a rare case of a lateral frenum hypertrophy in an infant, this paper describes the case of a girl who came to a first dental appointment when she was 4 months old. A hypertrophic lateral frenum in the upper left canine region was detected. A great depression in the gingival rodet separated the anterior maxillary segment from the posterior one and also decreased the lip mobility in this region. A frenectomy was performed when the patient was 11 months old and the clinical follow-up was done up to the age of 30 months. There was normalization in the vestibular insertion of the lateral frenum, lip mobility, physiological development of the maxilla, and eruption of the upper incisors, canines, and first primary molars. Infants should go to a dental examination precociously in order to detect possible congenital and development alterations.

  1. ICD Therapy for Primary Prevention in Hypertrophic Cardiomyopathy

    PubMed Central

    Trivedi, Amar

    2016-01-01

    Hypertrophic cardiomyopathy (HCM) is a common and heterogeneous disorder that increases an individual’s risk of sudden cardiac death (SCD). This review article discusses the relevant factors that are involved in the challenge of preventing SCD in patients with HCM. The epidemiology of SCD in patients is reviewed as well as the structural and genetic basis behind ventricular arrhythmias in HCM. The primary prevention of SCD with implantable cardioverter-defibrillator (ICD) therapy is the cornerstone of modern treatment for individuals at high risk of SCD. The focus here is on the current and emerging predictors of SCD as well as risk stratification recommendations from both North American and European guidelines. Issues related to ICD implantation, such as programming, complications and inappropriate therapies, are discussed. The emerging role of the fully subcutaneous ICD and the data regarding its implantation are reviewed. PMID:28116084

  2. NADPH-, NADH- and cumene hydroperoxide-dependent metabolism of benzo[a]pyrene by pyloric caeca microsomes of the sea star Asterias rubens L. (Echinodermata: Asteroidea).

    PubMed

    den Besten, P J; Lemaire, P; Livingstone, D R

    1994-10-01

    1. Benzo[a]pyrene (BaP) metabolism was studied in microsomes of the pyloric caeca (main digestive tissue and site of P450) of the echinoderm sea star (starfish) Asterias rubens. 2. NADPH-dependent metabolism of BaP produced phenols (36% of total metabolism), quinones (19%), dihydrodiols (25%) and putative protein adducts (20%). 3. NADH-dependent rates of BaP metabolism were approximately twice those found for NADPH-dependent metabolism, and metabolite formation was shifted towards dihydrodiols and quinones. 4. Cumene hydroperoxide (CHP)-dependent rates of BaP metabolism were also higher than NADPH-dependent rates by a factor of six for quinone and putative protein adduct production, and by a factor of four for phenol and dihydrodiol production. 5. Microsomal rates of BaP metabolism in BaP-exposed sea stars appeared to be elevated more in the case of NADPH-dependent than for CHP-dependent metabolism (respectively, increases of 130 and 41%), indicating the induction of forms of P450 preferentially catalysing NADPH-dependent metabolism. 6. 1,1,1-Trichloropropene-2,3-oxide (TCPO) inhibited dihydrodiol formation from both NADPH- and CHP-dependent BaP metabolism, indicating the involvement of epoxide hydratase in BaP metabolism. 7. Incubations of pyloric caeca microsomes with BaP and a superoxide anion radical-generating system (xanthine/xanthine oxidase) produced putative protein adducts but no free metabolites.

  3. A new era in clinical genetic testing for hypertrophic cardiomyopathy.

    PubMed

    Wheeler, Matthew; Pavlovic, Aleksandra; DeGoma, Emil; Salisbury, Heidi; Brown, Colleen; Ashley, Euan A

    2009-12-01

    Building on seminal studies of the last 20 years, genetic testing for hypertrophic cardiomyopathy (HCM) has become a clinical reality in the form of targeted exonic sequencing of known disease-causing genes. This has been driven primarily by the decreasing cost of sequencing, but the high profile of genome-wide association studies, the launch of direct-to-consumer genetic testing, and new legislative protection have also played important roles. In the clinical management of hypertrophic cardiomyopathy, genetic testing is primarily used for family screening. An increasing role is recognized, however, in diagnostic settings: in the differential diagnosis of HCM; in the differentiation of HCM from hypertensive or athlete's heart; and more rarely in preimplantation genetic diagnosis. Aside from diagnostic clarification and family screening, use of the genetic test for guiding therapy remains controversial, with data currently too limited to derive a reliable mutation risk prediction from within the phenotypic noise of different modifying genomes. Meanwhile, the power of genetic testing derives from the confidence with which a mutation can be called present or absent in a given individual. This confidence contrasts with our more limited ability to judge the significance of mutations for which co-segregation has not been demonstrated. These variants of "unknown" significance represent the greatest challenge to the wider adoption of genetic testing in HCM. Looking forward, next-generation sequencing technologies promise to revolutionize the current approach as whole genome sequencing will soon be available for the cost of today's targeted panel. In summary, our future will be characterized not by lack of genetic information but by our ability to effectively parse it.

  4. Determination of multidirectional myocardial deformations in cats with hypertrophic cardiomyopathy by using two-dimensional speckle-tracking echocardiography.

    PubMed

    Suzuki, Ryohei; Mochizuki, Yohei; Yoshimatsu, Hiroki; Teshima, Takahiro; Matsumoto, Hirotaka; Koyama, Hidekazu

    2017-02-01

    Objectives Hypertrophic cardiomyopathy, a primary disorder of the myocardium, is the most common cardiac disease in cats. However, determination of myocardial deformation with two-dimensional speckle-tracking echocardiography in cats with various stages of hypertrophic cardiomyopathy has not yet been reported. This study was designed to measure quantitatively multidirectional myocardial deformations of cats with hypertrophic cardiomyopathy. Methods Thirty-two client-owned cats with hypertrophic cardiomyopathy and 14 healthy cats serving as controls were enrolled and underwent assessment of myocardial deformation (peak systolic strain and strain rate) in the longitudinal, radial and circumferential directions. Results Longitudinal and radial deformations were reduced in cats with hypertrophic cardiomyopathy, despite normal systolic function determined by conventional echocardiography. Cats with severely symptomatic hypertrophic cardiomyopathy also had lower peak systolic circumferential strain, in addition to longitudinal and radial strain. Conclusions and relevance Longitudinal and radial deformation may be helpful in the diagnosis of hypertrophic cardiomyopathy. Additionally, the lower circumferential deformation in cats with severe hypertrophic cardiomyopathy may contribute to clinical findings of decompensation, and seems to be related to severe cardiac clinical signs. Indices of multidirectional myocardial deformations by two-dimensional speckle-tracking echocardiography may be useful markers and help to distinguish between cats with hypertrophic cardiomyopathy and healthy cats. Additionally, they may provide more detailed assessment of contractile function in cats with hypertrophic cardiomyopathy.

  5. Subarachnoid block and enlargement of the spinal canal in hypertrophic neuritis.

    PubMed

    De León, G A; Hodges, F J

    1976-06-01

    A case of Dejerine-Sottas hypertrophic neuritis is reported. The patient, a 45-year-old male, suffered from chronic hypertrophic polyneuropathy, abnormal pupils, fasciculations, tremor, back pain, impotence, sphincter disorders, cramps, and lightning pains in the lower extremities. Besides extensive subarachnoid block, there was X-ray evidence of enlargement of the bony spinal canal with scalloping of the lumbar vertebrae. Surgical exploration showed these abnormalities to be due to extreme hypertrophy of the cauda equina. Histologic findings in peripheral nerve and lumbar root biopsies were typical of hypertrophic neuropathy of the onion bulb type. Vertebral changes secondary to hypertrophied nerve roots appear not to have been described before in hypertrophic neuritis; however, knowledge of their possible occurrence may be of practical importance in the management of similar future cases. A simple way of visualizing enlarged peripheral nerves is briefly described.

  6. Activating types 1 and 2 angiotensin II receptors modulate the hypertrophic differentiation of chondrocytes☆

    PubMed Central

    Tsukamoto, Ichiro; Inoue, Shinji; Teramura, Takeshi; Takehara, Toshiyuki; Ohtani, Kazuhiro; Akagi, Masao

    2013-01-01

    A local tissue-specific renin–angiotensin system (local RAS) has been identified in many organs. However, no report has described the role of a local RAS in the hypertrophic differentiation of chondrocytes. To examine the role of a local RAS in the hypertrophic differentiation, we activated angiotensin II type 1 receptor (AT1R) and angiotensin II type 2 receptor (AT2R) separately in the cell line ATDC5, which involves differentiation from mesenchymal stem cells to hypertrophic chondrocytes. Activation of AT1R suppressed and activation of AT2R enhanced the expression of markers of hypertrophic differentiation, including type X collagen, matrix metalloproteinase 13 and runt-related transcription factor 2. PMID:23905010

  7. [Infantile hemangiomas: the revolution of beta-blockers].

    PubMed

    Leaute-Labreze, Christine

    2014-12-01

    Infantile hemangioma is the consequence of both postnatal vasculogenesis and angiogenesis. Hypoxia appears to play an important role as a contributory factor. Infantile hemangiomas have variable clinical features: superficial, deep or mixed. They can be localized or segmental involving a large skin area. Localized infantile hemangiomas are usually benign, unless they are located near a noble structure (airway orbit...), while segmental infantile hemangioma may be associated with complex underlying birth defects (PHACES and SACRAL syndromes). Clinical follow-up of infants with infantile hemangioma must be particularly careful in the first weeks of life since 80% of all infantile hemangiomas have reached their final size at age 5 months. A majority of infantile hemangiomas are mild and do not required any treatment. Main indications for treatment are: vital risk (heart failure, respiratory distress), functional risk (amblyopia, swallowing disorders...), painful ulceration and disfigurement (face involvement of nose, lips...). Propranolol, has been quickly adopted as the first line medical treatment for complicated infantile hemangioma; and it is the only treatment to have a marketing authorization in this indication. It is recommended to begin the treatment as early as possible before three months of age to minimize the risk of complications and sequelae.

  8. Physiological Regulation and Infantile Anorexia: A Pilot Study

    ERIC Educational Resources Information Center

    Chatoor, Irene; Ganiban, Jody; Surles, Jaclyn; Doussard-Roosevelt, Jane

    2004-01-01

    Objective: To examine whether infantile anorexia is associated with physiological dysregulation. Method: This study included eight toddlers with infantile anorexia and eight healthy eaters matched for age, race, socioeconomic status, and gender. Physiological measures of heart period and respiratory sinus arrhythmia were assessed across three…

  9. CSF B-Endorphin Levels in Patients with Infantile Autism.

    ERIC Educational Resources Information Center

    Nagamitsu, Shinichiro; And Others

    1997-01-01

    A Japanese study measured CSF (cerebrospinal fluid) levels of beta-endorphin in 19 children (ages 4-6) with infantile autism and in 3 children (ages 10-14) with Rett syndrome. In infantile autism, levels did not differ significantly from control participants (n=23). However, levels were significantly higher in those with Rett syndrome. (Author/CR)

  10. Part Two: Infantile Spasms--The New Consensus

    ERIC Educational Resources Information Center

    Pellock, John M.; O'Hara, Kathryn

    2011-01-01

    This article presents the conclusion made by the consensus group regarding infantile spasms. The consensus group concluded that "infantile spasms are a major form of severe epileptic encephalopathy of early childhood that results in neurodevelopmental regression and imposes a significant health burden." The entire group agrees that the best…

  11. Pressure therapy in treatment of hypertrophic scar, burn contracture and keloid: the Kenyan experience.

    PubMed

    Haq, M A; Haq, A

    1990-11-01

    A preliminary report of the results of pressure therapy for hypertrophic scar, burn contracture and keloid is presented. Thirty four patients over a four year period were treated with four types of pressure therapy. Results showed over 50% improvement in 21 (61.8%) cases. This method obviated the need for repetitive surgery and no recurrence was noted. Pressure therapy is advocated as an adjunct measure for all cases of hypertrophic scarring, burn contracture and keloid.

  12. Successful treatment of hypertrophic herpes simplex genitalis in HIV-infected patient with topical imiquimod.

    PubMed

    Deza, Gustavo; Martin-Ezquerra, Gemma; Curto-Barredo, Laia; Villar García, Judit; Pujol, Ramon M

    2015-12-01

    Hypertrophic herpes simplex genitalis is an atypical presentation of genital herpes described in the context of immunosuppression, particularly HIV-positive patients. This situation can become a diagnostic and therapeutic challenge. For this reason, alternative therapies are currently being discussed in the literature. We report a case of hypertrophic genital herpes in a HIV-positive patient who was successfully treated with topical 5% imiquimod after treatment failures with oral and i.v. antivirals.

  13. Pyloric Stenosis (For Parents)

    MedlinePlus

    ... condition that may affect the gastrointestinal tract during infancy, isn't normal — it can cause your baby ... the more common causes of intestinal obstruction during infancy that requires surgery. Causes It is believed that ...

  14. Pyloric Stenosis (For Parents)

    MedlinePlus

    ... have normal stools. A baby with allergy to milk protein may also spit up or vomit, as well as have diarrhea. However, these babies do not have projectile vomiting or ... continue to express milk until your baby can once again feed regularly. ...

  15. A case of infantile star anise toxicity.

    PubMed

    Madden, Gregory Russell; Schmitz, Kristine Held; Fullerton, Katherine

    2012-03-01

    Chinese star anise (Illicium verum) is a popular herbal remedy for infantile colic. Contamination with a related species of Japanese star anise (Illicium anisatum) has been related to cases of toxicity in infants. We report the case of a 3-month-old infant girl who presented to the emergency department with signs and symptoms of toxicity after recent star anise ingestion. Her presentation is consistent with other reports of toxicity that include particular gastrointestinal and neurological findings. A discussion of the clinical aspects of star anise toxicity, differential diagnosis, and management follows.

  16. Involvement of impaired desmosome-related proteins in hypertrophic scar intraepidermal blister formation.

    PubMed

    Tan, Jianglin; He, Weifeng; Luo, Gaoxing; Wu, Jun

    2015-11-01

    Hypertrophic scar is one of the unique fibrotic diseases in human. Intraepidermal blister is a common clinical symptom following the hypertrophic scar formation. However, little is known about the reason of blister creation. In this study, we selected three patients with hypertrophic scar as manifested by raised, erythematous, pruritic, blister and thickened appearance undergoing scar resection. The first scar sample was 6 months after burn from the neck of a 3 years old male patient with 10 score by Vancouver Scar Scale (VSS). The second scar sample was 12 months after burn from the dorsal foot of a 16 years old female patient with 13 score by VSS. The third one was 9 months after burn from the elbow of a 34 years old male patients with 13 score by VSS. In order to understand the molecular mechanism of blister formation, we screened the different protein expression between hypertrophic scar and normal skin tissue by means of isobaric tags for relative and absolute quantitation (iTRAQ) labeling technology and high throughput 2D LC-MS/MS. There were 48 proteins found to be downregulated in hypertrophic scar. Among the downregulated ones, plakophilin1 (PKP1), plakophilin3 (PKP3) and desmoplakin (DSP) were the desmosome-related proteins which were validated by immunohistochemistry and western blotting assay. Transmission electron microscopy further showed the considerably reduced size and intensity of hemidesmosome and desmosome in hypertrophic scar tissue, compared to control normal skin. Our data indicted for the first time that downregulation of DSP, PKP1 and PKP3 in hypertrophic scar might be responsible for intraepidermal blister formation.

  17. Evidence-based guideline update: Medical treatment of infantile spasms

    PubMed Central

    Go, C.Y.; Mackay, M.T.; Weiss, S.K.; Stephens, D.; Adams-Webber, T.; Ashwal, S.; Snead, O.C.

    2012-01-01

    Objective: To update the 2004 American Academy of Neurology/Child Neurology Society practice parameter on treatment of infantile spasms in children. Methods: MEDLINE and EMBASE were searched from 2002 to 2011 and searches of reference lists of retrieved articles were performed. Sixty-eight articles were selected for detailed review; 26 were included in the analysis. Recommendations were based on a 4-tiered classification scheme combining pre-2002 evidence and more recent evidence. Results: There is insufficient evidence to determine whether other forms of corticosteroids are as effective as adrenocorticotropic hormone (ACTH) for short-term treatment of infantile spasms. However, low-dose ACTH is probably as effective as high-dose ACTH. ACTH is more effective than vigabatrin (VGB) for short-term treatment of children with infantile spasms (excluding those with tuberous sclerosis complex). There is insufficient evidence to show that other agents and combination therapy are effective for short-term treatment of infantile spasms. Short lag time to treatment leads to better long-term developmental outcome. Successful short-term treatment of cryptogenic infantile spasms with ACTH or prednisolone leads to better long-term developmental outcome than treatment with VGB. Recommendations: Low-dose ACTH should be considered for treatment of infantile spasms. ACTH or VGB may be useful for short-term treatment of infantile spasms, with ACTH considered preferentially over VGB. Hormonal therapy (ACTH or prednisolone) may be considered for use in preference to VGB in infants with cryptogenic infantile spasms, to possibly improve developmental outcome. A shorter lag time to treatment of infantile spasms with either hormonal therapy or VGB possibly improves long-term developmental outcomes. PMID:22689735

  18. New data on the morphology of Spinitectus oviflagellis Fourment, 1884 (Nematoda: Cystidicolidae) from the pyloric caeca of Macrourus berglax (Macrouridae) in the eastern Greenland Sea.

    PubMed

    Moravec, Frantisek; Klimpel, Sven

    2007-05-01

    Specimens of a little-known nematode, Spinitectus oviflagellis Fourment, 1884, the type-species of Spinitectus Fourment, 1884, were collected mainly from the pyloric caeca of a marine deep-water fish, the onion-eye grenadier Macrourus berglax Lacépède (a new host record), in the eastern Greenland Sea, North Atlantic Ocean. Studies using light and scanning electron microscopy revealed some taxonomically important, previously unreported features of S. oviflagellis, such as the detailed structure of the cephalic end, the position of the excretory pore and the presence of ventral pre-anal cuticular ridges (area rugosa) in the male, which indicated a certain degree of intraspecific biometrical variability in this species. S. oviflagellis is compared with similar congeneric species parasitising marine fishes.

  19. Palliation of Pyloric Stenosis Caused by Gastric Cancer Using an Endoscopically Placed Covered Ultraflex Stent: Covered Stent Inside an Occluded Uncovered Stent

    SciTech Connect

    Nakamura, Toshifumi; Kitagawa, Mutsuo; Takehira, Yasunori; Yamada, Masami; Nishiwaki, Yoshiro; Nakamura, Hirotoshi

    2000-07-15

    A 71-year-old man developed pyloric stenosis caused by gastric cancer. Vomiting and nausea resolved after the insertion of an uncovered Ultraflex stent (length 10 cm, inner diameter 18u23 mm) through a 7-cm-long stenosis, and the patient was able to eat a soft diet. After 6 weeks, stent occlusion occurred due to tumor ingrowth and accumulation of food residue. Endoscopic observation showed a very narrow residual lumen. A covered Ultraflex stent (length 10 cm, inner diameter 18u23 mm) was inserted through the first stent and expanded to its maximum diameter over the next 2 days. The patient's vomiting and nausea improved rapidly. He died 6 months after the second stenting procedure, from metastatic tumor spread, having remained free of nausea and vomiting. In this case, a covered metallic stent prevented tumor ingrowth and maintained gastrointestinal patency.

  20. Infantile esotropia: risk factors associated with reoperation

    PubMed Central

    Magli, Adriano; Rombetto, Luca; Matarazzo, Francesco; Carelli, Roberta

    2016-01-01

    The aim of this study was to identify clinical and demographic factors associated with misalignment after first surgery performed on children affected by infantile esotropia to evaluate the reoperation rate. A retrospective study was carried out, analyzing data from 525 children who underwent bilateral medial recti recession, bilateral lateral recti resection, and inferior oblique recession and anteroposition by the same surgeon (AM). Postoperative evaluation included assessment of motor alignment at approximately 3 months, 6 months, 1 year, and 5 years. Statistical analysis was performed with a logistical regression model in which the dependent variable was the presence/absence of reoperation. We found that late surgery (after 3 years of age) and a family history of strabismus are associated with a higher risk of reoperation, while some clinical factors, including some classically associated with worst motor outcome as preoperative angle, dissociated vertical deviation, and amblyopia, did not influence the incidence of reoperation in infantile esotropia. Male patients and patients with hyperopia in preoperative examinations have a significantly decreased reoperation rate. PMID:27799735

  1. [Perioperative management for patients with hypertrophic cardiomyopathy undergoing noncardiac surgery].

    PubMed

    Okuyama, A; Goda, Y; Kawahigashi, H; Takita, K; Okuyama, M; Kubota, M

    1992-01-01

    We had two patients with hypertrophic cardiomyopathy for noncardiac surgeries. Case 1: A 74-year-old man for right nephrectomy received epidural lidocaine and nitrous oxide combined with 0.2-0.6% isoflurane. During the operation, heart rate and blood pressure were relatively unstable, but he woke up promptly after the operation. Early on the morning of the 2nd post-operative day, he was found dead on his bed. Case 2: A 52-year-old man for gastrectomy was anesthetized with nitrous oxide and halothane with continuous propranolol infusion. Through the operative period, heart rate and blood pressure were stable and postoperative course was uneventful. In these two patients, preoperative Holter ECG showed ventricular tachycardia, which may increase the risk of a sudden death. These cases demonstrate that general anesthesia with nitrous oxide combined with halothane, can be administered with a low risk in patients with HCM for noncardiac surgery and that postoperative intensive care unit monitoring is necessary for these patients for several days to prevent a sudden death.

  2. Vps34 regulates myofibril proteostasis to prevent hypertrophic cardiomyopathy

    PubMed Central

    Kimura, Hirotaka; Eguchi, Satoshi; Sasaki, Junko; Kuba, Keiji; Nakanishi, Hiroki; Yamazaki, Masakazu; Goto, Akiteru; Watanabe, Hiroyuki; Itoh, Hiroshi; Imai, Yumiko; Suzuki, Akira

    2017-01-01

    Hypertrophic cardiomyopathy (HCM) is a common heart disease with a prevalence of 1 in 500 in the general population. Several mutations in genes encoding cardiac proteins have been found in HCM patients, but these changes do not predict occurrence or prognosis and the molecular mechanisms underlying HCM remain largely elusive. Here we show that cardiac expression of vacuolar protein sorting 34 (Vps34) is reduced in a subset of HCM patients. In a mouse model, muscle-specific loss of Vps34 led to HCM-like manifestations and sudden death. Vps34-deficient hearts exhibited abnormal histopathologies, including myofibrillar disarray and aggregates containing αB-crystallin (CryAB). These features result from a block in the ESCRT-mediated proteolysis that normally degrades K63-polyubiquitinated CryAB. CryAB deposition was also found in myocardial specimens from a subset of HCM patients whose hearts showed decreased Vps34. Our results identify disruption of the previously unknown Vps34-CryAB axis as a potentially novel etiology of HCM. PMID:28097232

  3. Idiopathic hypertrophic pachymeningitis mimicking prolactinoma with recurrent vision loss.

    PubMed

    Lok, Julie Y C; Yip, Nelson K F; Chong, Kelvin K L; Li, C L; Young, Alvin L

    2015-08-01

    Idiopathic hypertrophic pachymeningitis is a rare inflammatory condition with diffuse thickening of the dura mater, which may cause a compressive effect or vascular compromise. We report on a 28-year-old Chinese woman with a history of granulomatous mastitis 7 years previously and oligomenorrhoea, headache, blurred vision, and raised prolactin level 2 years previously, that was diagnosed as prolactinoma and treated conservatively with bromocriptine. However, she had recurrent bilateral vision loss when the bromocriptine was stopped. Her symptoms were resolved by high-dose steroid injection but remained steroid-dependent. Serial magnetic resonance imaging scan showed progressive diffuse thickening of the pachymeningitis with disappearance of pituitary apoplexy. Lumbar puncture showed lymphocytosis with no organisms. Open biopsy of the meninges was performed and histology showed features of inflammatory infiltrates and vasculitis. This is an unusual presentation of a rare condition in this age-group, with co-existing granulomatous mastitis and chronic otitis media, and is a diagnostic challenge mimicking pituitary macroadenoma and meningioma in initial magnetic resonance imaging scans.

  4. Hypertrophic cardiomyopathy--state of the art in 2007.

    PubMed

    Monteiro, Silvia; Costa, Susana; Monteiro, Pedro; Gonçalves, Lino; Providência, Luís A

    2008-05-01

    Hypertrophic cardiomyopathy (HCM) is a primary disease of the sarcomere, with considerable genetic heterogeneity and variability in phenotypic expression, whose main complication is sudden cardiac death (SCD). Genetic aspects of HCM, its molecular pathophysiology and genotype-phenotype relationships are the subject of this review, which is aimed at better understanding of practical management in this patient population. As HCM is a genetic disease whose initial manifestation can be sudden death, it is essential to establish the diagnosis at an early stage, to proceed with risk stratification and implementation of SCD prevention strategies, and to promote genetic counseling of patients and screening of their families. Detection of pathological mutations through progressive sequencing of the genes most commonly involved is the most efficient way to diagnose HCM, even in the absence of clinical evidence of the disease. Identification of individuals at high risk of SCD is a major challenge in the management of this population, since SCD can be prevented by use of an implantable cardioverter-defibrillator. The selection of patients for prophylactic implantation of these devices, particularly those who have only one major risk factor, is currently the subject of controversy.

  5. Diastolic filling in a physical model of obstructive hypertrophic cardiomyopathy

    NASA Astrophysics Data System (ADS)

    Schovanec, Joseph; Samaee, Milad; Lai, Hong Kuan; Santhanakrishnan, Arvind

    2015-11-01

    Hypertrophic Cardiomyopathy (HCM) is an inherited heart disease that affects as much as one in 500 individuals, and is the most common cause of sudden death in young athletes. The myocardium becomes abnormally thick in HCM and deforms the internal geometry of the left ventricle (LV). Previous studies have shown that a vortex is formed during diastolic filling, and further that the dilated LV morphology seen in systolic heart failure results in altering the filling vortex from elliptical to spherical shape. We have also previously shown that increasing LV wall stiffness decreases the filling vortex circulation. However, alterations to intraventricular filling fluid dynamics due to an obstructive LV morphology and locally elevated wall stiffness (in the hypertrophied region) have not been previously examined from a mechanistic standpoint. We conducted an experimental study using an idealized HCM physical model and compared the intraventricular flow fields obtained from 2D PIV to a baseline LV physical model with lower wall stiffness and anatomical geometry. The obstruction in the HCM model leads to earlier breakdown of the filling vortex as compared to the anatomical LV. Intraventricular filling in both models under increased heart rates will be discussed.

  6. Hemolytic anemia in a patient with hypertrophic obstructive cardiomyopathy.

    PubMed

    Kubo, Toru; Kitaoka, Hiroaki; Terauchi, Yasunobu; Tamura, Shinjiro; Okawa, Makoto; Yamasaki, Naohito; Yabe, Toshikazu; Doi, Yoshinori L

    2010-01-01

    A 66-year-old woman was referred for further evaluation and treatment of normocytic and normochromic anemia with hemoglobin level of 8.6 g/dL. A peripheral blood smear showed fragmented erythrocytes. The patient was then referred to the department of cardiology because of systolic murmur, ECG abnormality, and red cell fragmentation. Transthoracic echocardiography revealed hypertrophic cardiomyopathy with particularly increased interventricular septal thickness of 24 mm and a hyperkinetic wall motion, resulting in marked obstruction to left ventricular outflow tract (pressure gradient of 200 mmHg). Mitral regurgitation due to systolic anterior motion of the mitral valve leaflets was also seen. The cause of anemia was thought to be mechanical intravascular hemolysis due to left ventricular outflow tract obstruction and mitral regurgitation. She was treated with atenolol and the class Ia antiarrhythmic drug cibenzoline to relieve the outflow tract obstruction, and the pressure gradient was reduced to 70 mmHg. After 3 months of treatment, her hemoglobin level had increased to 11.4 g/dL without additional treatment for anemia.

  7. The Ups and Downs of Genetic Diagnosis of Hypertrophic Cardiomyopathy.

    PubMed

    Gómez, Juan; Reguero, Julián R; Coto, Eliecer

    2016-01-01

    Massive DNA sequencing, also known as next-generation sequencing, has revolutionized genetic diagnosis. This technology has reduced the effort and cost needed to analyze several genes simultaneously and has made genetic evaluation available to a larger number of patients. In hypertrophic cardiomyopathy, genetic analysis has increased from the 3 main genes implicated in the disease (MYH7, MYBPC3, TNNT2) to sequencing of more than 20 related genes. Despite the advantages of acquiring this additional information, many patients show variants of uncertain significance (mainly amino acid changes), which may also be present in at least 1 healthy control undergoing genome sequencing. This will be a dead-end situation unless the variant can be demonstrated to be associated with the disease in the patient's family. In the absence of clear evidence that these variants are truly pathogenic, they cannot be used for reliable genetic counselling in family members. Massive sequencing also enables identification of new candidate genes, but again, the problem of variants of uncertain significance limits the success of these assessments.

  8. Hypertrophic Olivary Degeneration: A Neurosurgical Point of View.

    PubMed

    Carvalho, Carlos Henrique; Kimmig, Hubert; Lopez, William Omar Contreras; Lange, Manfred; Oeckler, Reinhard

    2016-01-01

    Hypertrophic olivary degeneration (HOD) is a rare form of transsynaptic degeneration characterized by hypertrophy of the inferior olivary nucleus situated in the olivary body, part of the medulla oblongata, representing a major source of input to the cerebellum. HOD typically results from focal lesions interrupting connections from the inferior olive within the dentato-rubro-olivary pathway, a region also known as the triangle of Guillain-Mollaret (TGM) (red nucleus, inferior olivary nucleus, and contralateral dentate nucleus). Clinically, HOD presents classically as palatal tremor and can include dentatorubral tremor and/or ocular myoclonus. The pathologic changes associated with HOD feature radiologic changes with the inferior olivary nucleus appearing larger and increasing its T2-weighted signal intensity on magnetic resonance images. HOD is commonly managed with pharmacotherapy but may require surgical intervention in extreme cases. HOD has been found to develop as a consequence of any injury that disrupts the TGM pathways (e.g., pontine cavernoma).These findings highlight the critical importance of a thorough knowledge of TGM anatomy to avoid secondary HOD. We present a patient who developed HOD secondary to resection of a tectal plate cavernous malformation and review the literature with an emphasis on the current knowledge of this disorder.

  9. The Signaling Pathways Involved in Chondrocyte Differentiation and Hypertrophic Differentiation

    PubMed Central

    Li, Jianmei

    2016-01-01

    Chondrocytes communicate with each other mainly via diffusible signals rather than direct cell-to-cell contact. The chondrogenic differentiation of mesenchymal stem cells (MSCs) is well regulated by the interactions of varieties of growth factors, cytokines, and signaling molecules. A number of critical signaling molecules have been identified to regulate the differentiation of chondrocyte from mesenchymal progenitor cells to their terminal maturation of hypertrophic chondrocytes, including bone morphogenetic proteins (BMPs), SRY-related high-mobility group-box gene 9 (Sox9), parathyroid hormone-related peptide (PTHrP), Indian hedgehog (Ihh), fibroblast growth factor receptor 3 (FGFR3), and β-catenin. Except for these molecules, other factors such as adenosine, O2 tension, and reactive oxygen species (ROS) also have a vital role in cartilage formation and chondrocyte maturation. Here, we outlined the complex transcriptional network and the function of key factors in this network that determine and regulate the genetic program of chondrogenesis and chondrocyte differentiation. PMID:28074096

  10. The pyloric caeca area is a major site for IgM(+) and IgT(+) B cell recruitment in response to oral vaccination in rainbow trout.

    PubMed

    Ballesteros, Natalia A; Castro, Rosario; Abos, Beatriz; Rodríguez Saint-Jean, Sylvia S; Pérez-Prieto, Sara I; Tafalla, Carolina

    2013-01-01

    Although previous studies have characterized some aspects of the immune response of the teleost gut in response to diverse pathogens or stimuli, most studies have focused on the posterior segments exclusively. However, there are still many details of how teleost intestinal immunity is regulated that remain unsolved, including the location of IgM(+) and IgT(+) B cells along the digestive tract and their role during the course of a local stimulus. Thus, in the current work, we have studied the B cell response in five different segments of the rainbow trout (Oncorhynchus mykiss) digestive tract in both naïve fish and fish orally vaccinated with an alginate-encapsulated DNA vaccine against infectious pancreatic necrosis virus (IPNV). IgM(+) and IgT(+) cells were identified all along the tract with the exception of the stomach in naïve fish. While IgM(+) cells were mostly located in the lamina propria (LP), IgT(+) cells were primarily localized as intraepithelial lymphocytes (IELs). Scattered IgM(+) IELs were only detected in the pyloric caeca. In response to oral vaccination, the pyloric caeca region was the area of the digestive tract in which a major recruitment of B cells was demonstrated through both real time PCR and immunohistochemistry, observing a significant increase in the number of both IgM(+) and IgT(+) IELs. Our findings demonstrate that both IgM(+) and IgT(+) respond to oral stimulation and challenge the paradigm that teleost IELs are exclusively T cells. Unexpectedly, we have also detected B cells in the fat tissue associated to the digestive tract that respond to vaccination, suggesting that these cells surrounded by adipocytes also play a role in mucosal defense.

  11. The evaluation of anti-ulcerogenic effect of rhizome starch of two source plants of Tugaksheeree (Curcuma angustifolia Roxb. and Maranta arundinacea Linn.) on pyloric ligated rats

    PubMed Central

    Rajashekhara, N.; Ashok, B. K.; Sharma, Parmeshwar P.; Ravishankar, B.

    2014-01-01

    Background: In the present era, because of the life-style, the disorders such as hyperacidity and gastric ulcers are found very frequently. Satwa (starch) obtained from the rhizomes of two plants namely Curcuma angustifolia Roxb. and Maranta arundinacea Linn. are used in folklore practice for the treatment of above complaints under the name Tugaksheeree. Aim: To compare the anti-ulcerogenic activity of the above two drugs in pyloric ligation induced gastric ulcer in albino rats. Materials and Methods: A total of 18 Wistar strain albino rats of both sexes grouped into three groups. Group C served as pyloric ligated control group, Group I received starch of C. angustifolia suspension and Group II received starch of M. arundinacea for seven days. On 8th day pylorus was ligated. After ligation the animals were deprived of food and water and sacrificed at the end of 14 h. The collected gastric contents were used for biochemical estimation and ulcer index was calculated from excised stomach. Results: Both the test drugs showed statistically significant decrease in the volume, increase in the pH, reduced the free acidity of gastric juice and decreased the peptic activity. The starch of C. angustifolia reduced a total acidity non-significantly while M. arundinacea reduced it significantly. Among the two drugs the M. arundinacea has effectively reduced the peptic activity, which is statistically significant. M. arundinacea shown statistically significant increase of total carbohydrates. Conclusion: Both the test drugs proved anti-ulcer activity and prevents the chance of gastric ulcer. Among these two M. arundinacea is more effective. PMID:25558167

  12. Evidence-Based Medicine in the Treatment of Infantile Hemangiomas.

    PubMed

    Keller, Robert G; Patel, Krishna G

    2015-08-01

    Over the past decade, the treatment of infantile hemangiomas has undergone dramatic breakthroughs. This review critically evaluates the latest literature that supports the myriad treatment options for infantile hemangiomas. It chronicles the fading role of steroid therapy and evolution of propranolol use as the major treatment modality. Although propranolol is helping this disease become more of a medical disease and less of a surgical dilemma, the report also reveals a continued search to find nonsystemic treatment options. In summary, this is an evidence-based medicine review for the treatment of infantile hemangiomas.

  13. Infantile botulism caused by Clostridium butyricum type E toxin.

    PubMed

    Abe, Yuichi; Negasawa, Tetsuro; Monma, Chie; Oka, Akira

    2008-01-01

    The case of a 9-month-old boy with infantile botulism caused by Clostridium butyricum type E toxin is reported. Because infantile botulism is rare in Japan, it was difficult to diagnose it at an early stage. Electrophysiologic findings were useful for the diagnosis, and were characterized by incremental responses (waxing) to short intervals and rapid repetitive nerve stimulation. A bioassay for botulism in mice indicated that the patient had botulism due to type E or F botulinum toxin. C. butyricum type E was isolated from his feces, confirming the diagnosis. This is the first known case of infantile botulism due to C. butyricum type E toxin in Japan.

  14. Genetics Home Reference: X-linked infantile nystagmus

    MedlinePlus

    ... infantile nystagmus is a condition characterized by abnormal eye movements. Nystagmus is a term that refers to involuntary ... the first six months of life. The abnormal eye movements may worsen when an affected person is feeling ...

  15. Bimodal spectroscopy for in vivo characterization of hypertrophic skin tissue: pre-clinical experimentation, spectral data selection and classification

    NASA Astrophysics Data System (ADS)

    Liu, Honghui; Gisquet, Héloïse; Guillemin, F.; Blondel, Walter C. P. M.

    2011-07-01

    Objective: The objective of this study was two folds: firstly, we would like to investigate the efficiency of bimodal spectroscopic technique in characterization of hypertrophic scarring tissue deliberately created on a preclinical model (rabbit's ear); on the other hand, we evaluate the inhibition effect of an anti-inflammatory medication (tacrolimus) on hypertrophic formation in scar by using our bimodal spectroscopic system. Study design: This study was conducted on 20 New Zealand Rabbits receiving hypertrophic scarring treatment on their ears. Fluorescence and Diffuse Reflectance spectra were collected from each scar, amongst which some had received tacrolimus treatment. Features were extracted from corrected spectral data and analyzed to classify the scarring tissues into hypertrophic or non-hypertrophic. Diagnostic algorithms were developed with the use of k-NN classifier and validated by comparing to histological classification result with Leave-one- out cross validation. Results and discussion: The accuracy of our bimodal spectroscopy method for detecting hypertrophic scarring scar tissue was good (sensibility: 90.84%, specificity: 94.44%). The features used for classification were mainly extracted from the spectra exited at 360, 410 and 420 nm. This indicates that the difference between the spectra acquired from hypertrophic and non-hypertrophic tissue may be due to the different intensity distribution of several fluorophores (collagen,elastin and NADH) excited in this range, or to the change in proportion of tissue layers (epidermis and dermis) explored by the CEFS in use.

  16. Infantile or Malignant Osteopetrosis: Case Report of Two Siblings

    PubMed Central

    Rao P., Tarakeswara; V., Sunita; T.P., Gandhi; Harsha, Sri

    2013-01-01

    Infantile or Malignant osteopetrosis is a rare congenital disorder of bone resorption. It is caused by failure of osteoclasts to reabsorb immature bone. Severe infantile or malignant osteopetrosis present at birth or develops within the first few months of life. We are reporting here a case of two siblings with malignant osteopetrosis. Prominent clinical features included marked pallor, noisy respiration, progressive blindness and developmental delay. PMID:24086906

  17. Cor pulmonale in a case of infantile Gaucher's disease.

    PubMed

    Patra, Soumya; Chatterjee, Sayan; Singhla, Shilpi; Patra, Bijoy; Maheswari, Anu; Seth, Anju

    2011-04-01

    Infantile Gaucher's disease presenting as cor pulmonale is rarely reported in pediatric literature. We report a 3.3 year old boy with infantile Gaucher's disease who presented to us as interstitial lung disease, pulmonary hypertension along with features of cor pulmonale. The high resolution CT findings were typical of interstitial and airspace disease. Cor pulmonale in this patient was a result of severe pulmonary hypertension.

  18. Hypertrophic Osteoarthropathy and Follicular Thyroid Cancer: A Rare Paraneoplastic Syndrome

    PubMed Central

    Tavarelli, Martina; Sarfati, Julie; De Gennes, Christian; Haroche, Julien; Buffet, Camille; Ghander, Cécile; Simon, Jean Marc; Ménégaux, Fabrice; Leenhardt, Laurence

    2015-01-01

    Background Hypertrophic osteoarthropathy (HOA) is a rare condition characterized by bone and joint pain and digital clubbing usually associated with bronchopulmonary diseases. Primary HOA is rare and the pathogenesis remains unclear. Objectives Cases of HOA as a paraneoplastic syndrome associated with thyroid carcinoma are very rare – only 2 cases have been described in the literature. Results We present the first case of a 40-year-old patient affected by HOA associated with invasive differentiated follicular thyroid carcinoma operated in 2 stages. Both operations were followed by radioiodine ablation, and then a rapid unresectable local recurrence developed requiring cervical radiotherapy (70 Gy). A second treatment with 100 mCi of 131I confirmed it was a refractory thyroid cancer. Further surgery confirmed a poorly differentiated follicular cancer and 12 cycles of chemotherapy by gemcitabine and oxaliplatin followed. During the 8 years of follow-up, cervical recurrence was stable, but severe episodes of hemoptysis occurred requiring iterative embolization of the bronchial and tracheal arteries. Other lung diseases were excluded. Digital clubbing appeared, which was associated with arthritis, bone pain and inflammatory syndrome. X-rays and magnetic resonance imaging found periosteal apposition in the long bones; bone scintigraphy confirmed the HOA diagnosis. Other causes of arthritis were eliminated. She was treated with colchicine, corticosteroids and nonsteroidal anti-inflammatory drugs, but only the combination of methotrexate and hydroxychloroquine reduced the morphine requirements. Conclusion HOA is exceptionally associated with thyroid cancer and we raised the hypothesis of the secretion of a circulating factor in a patient with invasive and recurrent follicular thyroid cancer, refractory to radioiodine. PMID:26835431

  19. Genetics of hypertrophic cardiomyopathy after 20 years: clinical perspectives.

    PubMed

    Maron, Barry J; Maron, Martin S; Semsarian, Christopher

    2012-08-21

    Hypertrophic cardiomyopathy (HCM) is the most common familial heart disease with vast genetic heterogeneity, demonstrated over the past 20 years. Mutations in 11 or more genes encoding proteins of the cardiac sarcomere (>1,400 variants) are responsible for (or associated with) HCM. Explosive progress achieved in understanding the rapidly evolving science underlying HCM genomics has resulted in fee-for-service testing, making genetic information widely available. The power of HCM mutational analysis, albeit a more limited role than initially envisioned, lies most prominently in screening family members at risk for developing disease and excluding unaffected relatives, which is information not achievable otherwise. Genetic testing also allows expansion of the broad HCM disease spectrum and diagnosis of HCM phenocopies with different natural history and treatment options, but is not a reliable strategy for predicting prognosis. Interfacing a heterogeneous disease such as HCM with the vast genetic variability of the human genome, and high frequency of novel mutations, has created unforeseen difficulties in translating complex science (and language) into the clinical arena. Indeed, proband diagnostic testing is often expressed on a probabilistic scale, which is frequently incompatible with clinical decision making. Major challenges rest with making reliable distinctions between pathogenic mutations and benign variants, and those judged to be of uncertain significance. Genotyping in HCM can be a powerful tool for family screening and diagnosis. However, wider adoption and future success of genetic testing in the practicing cardiovascular community depends on a standardized approach to mutation interpretation, and bridging the communication gap between basic scientists and clinicians.

  20. Altered patterns of cardiac intercellular junction distribution in hypertrophic cardiomyopathy.

    PubMed Central

    Sepp, R.; Severs, N. J.; Gourdie, R. G.

    1996-01-01

    OBJECTIVE: To examine the distribution pattern of intercellular junctions (the mechanically coupling desmosomes and the electrically coupling gap junctions) in hypertrophic cardiomyopathy (HCM) hearts showing myofibre disarray. DESIGN: Samples from six necropsied hearts were studied, representing the interventricular septum and the free walls of the left and right ventricles. Immunohistochemical labelling of desmoplakin was used as a marker for desmosomes, and of connexin43 as a marker for gap junctions, in single and double stainings. The slides were examined by confocal laser scanning microscopy. RESULTS: Marked disorganisation of intercalated discs was observed in areas featuring myofibre disarray. Besides overall derangement, localised abnormalities in desmosome organisation were evident, which included: (1) the formation of abnormally enlarged megadiscs; (2) the presence of intersecting disc structures; and (3) aberrant side to side desmosomal connections. Gap junctional abnormalities included: (1) random distribution of gap junctions over the surface of myocytes, rather than localisation to intercalated discs; (2) abundant side to side gap junction connections between adjacent myocytes; and (3) formation of abnormally shaped gap junctions. Circles of myocytes continuously interconnected by gap junctions were also observed. Regions of the diseased hearts lacking myofibre disarray, and control hearts of normal patients and patients with other cardiac diseases, did not show these alterations. CONCLUSIONS: The disorganisation of the intercellular junctions associated with myofibre disarray in HCM may play an important role in the pathophysiological manifestations of the disease. The remodelling of gap junction distribution may underlie the formation of an arrhythmogenic substrate, thereby contributing to the generation and maintenance of cardiac arrhythmias associated with HCM. Images PMID:8944586

  1. Quantitative measurement of hypertrophic scar: interrater reliability and concurrent validity.

    PubMed

    Nedelec, Bernadette; Correa, José A; Rachelska, Grazyna; Armour, Alexis; LaSalle, Léo

    2008-01-01

    Research into the pathophysiology and treatment of hypertrophic scar (HSc) remains limited by the heterogeneity of scar and the imprecision with which its severity is measured. The objective of this study was to test the interrater reliability and concurrent validity of the Cutometer measurement of elasticity, the Mexameter measurement of erythema and pigmentation, and total thickness measure of the DermaScan C relative to the modified Vancouver Scar Scale (mVSS) in patient-matched normal skin, normal scar, and HSc. Three independent investigators evaluated 128 sites (severe HSc, moderate or mild HSc, donor site, and normal skin) on 32 burn survivors using all of the above measurement tools. The intraclass correlation coefficient, which was used to measure interrater reliability, reflects the inherent amount of error in the measure and is considered acceptable when it is >0.75. Interrater reliability of the totals of the height, pliability, and vascularity subscales of the mVSS fell below the acceptable limit ( congruent with0.50). The individual subscales of the mVSS fell well below the acceptable level (< or =0.3). The Cutometer reading of elasticity provided acceptable reliability (>0.89) for each study site with the exception of severe scar. Mexameter and DermaScan C reliability measurements were acceptable for all sites (>0.82). Concurrent validity correlations with the mVSS were significant except for the comparison of the mVSS pliability subscale and the Cutometer maximum deformation measure comparison in severe scar. In conclusion, the Mexameter and DermaScan C measurements of scar color and thickness of all sites, as well as the Cutometer measurement of elasticity in all but the most severe scars shows high interrater reliability. Their significant concurrent validity with the mVSS confirms that these tools are measuring the same traits as the mVSS, and in a more objective way.

  2. Hypertrophic lichen planus versus prurigo nodularis: a dermoscopic perspective

    PubMed Central

    Ankad, Balachandra S.; Beergouder, Savitha L.

    2016-01-01

    Background: Hypertrophic lichen planus (HLP) classically involves shin and ankles and is characterized by hyperkeratotic plaques and nodules. Prurigo nodularis (PN) is a chronic neurodermatitis that presents with intensely pruritic nodules. Histopathology of HLP and PN demonstrate epidermal hyperplasia, hypergranulosis, and compact hyperkeratosis. The dermis shows vertically arranged collagen fibers and an increased number of fibroblasts and capillaries in both conditions. Moreover, basal cell degeneration is confined to the tips of rete ridges, and band-like infiltration is conspicuously absent in HLP. Therefore, both conditions mimic each other clinically, which makes diagnosis difficult. Hence, there is a need for a diagnostic technique to differentiate both conditions. Objective: To evaluate dermoscopic patterns in HLP and PN and to study these patterns histopathologically. Materials and methods: The study was conducted at S. Nijalingappa Medical College in Bagalkot. It was an observational case series study. Ethical clearance and informed consent was obtained. A Dermlite 3 dermoscope (3Gen, San Juan Capistrano, CA, USA) attached to a Sony Cyber Shot camera DSC-W800 (Sony Electronics Inc., San Diego, California, USA) was employed. Histopathology was done to confirm the diagnosis. Results: There were 10 patients each with HLP and PN. HLP was seen in 8 males and 2 females. PN was observed in 7 females and 3 males. Dermoscopy of HLP demonstrated pearly white areas and peripheral striations (100%), gray-blue globules (60%), comedo-like openings (30%), red dots (40%), red globules (10%), brownish-black globules (30%), and yellowish structures (90%). In PN, red dots (70%), red globules (60%), and pearly white areas with peripheral striations (100%) were observed under dermoscopy. Conclusion: Both HLP and PN demonstrated specific dermoscopic patterns which can be demonstrated on histopathologic findings. The authors propose that these patterns are hallmarks of each

  3. Clinical significance of giant negative T waves in hypertrophic cardiomyopathy

    SciTech Connect

    Alfonso, F.; Nihoyannopoulos, P.; Stewart, J.; Dickie, S.; Lemery, R.; McKenna, W.J. )

    1990-04-01

    To assess the clinical significance of giant negative T waves in patients with hypertrophic cardiomyopathy from Western nations, clinical, echocardiographic, radionuclide and 48 h electrocardiographic (ECG) monitoring findings were compared in 27 patients with and 56 patients without giant negative T waves. Patients with giant negative T waves were older at diagnosis (43 +/- 15 versus 32 +/- 14 years, p less than 0.005), had greater ECG voltage (SV1 + RV5 = 57 +/- 20 versus 37 +/- 18 mm, p less than 0.001) and had a more vertical frontal plane axis (38.4 +/- 34 versus 13.4 +/- 45 degrees, p less than 0.05). Left ventricular wall thickness on two-dimensional echocardiography was similar at the mitral valve level (mean 16.5 +/- 4 versus 16.6 +/- 3 cm), but was greater at the papillary muscle level (mean 20.7 +/- 5 versus 17.6 +/- 3 mm, p less than 0.01) and apex (mean 23.3 +/- 5 versus 17.3 +/- 3 mm, p less than 0.001) in patients with giant negative T waves. Fewer patients with giant negative T waves had asymmetric septal hypertrophy (12 (44%) of 27 versus 36 (64%) of 56, p = 0.08) or systolic anterior motion of the mitral valve (4 (14%) of 27 versus 25 (45%) of 56, p less than 0.01), whereas left ventricular end-diastolic (44.1 +/- 6 versus 39.6 +/- 5 mm, p = 0.01) and end-systolic dimensions (27.8 +/- 4 versus 24 +/- 6 mm, p less than 0.05) were greater in this group. Nonsustained ventricular tachycardia was seen on ECG monitoring in 21% of patients in both groups.

  4. Abnormal Mitral Valve Dimensions in Pediatric Patients with Hypertrophic Cardiomyopathy.

    PubMed

    Schantz, Daryl; Benson, Lee; Windram, Jonathan; Wong, Derek; Dragulescu, Andreea; Yoo, Shi-Joon; Mertens, Luc; Friedberg, Mark; Al Nafisi, Bahiyah; Grosse-Wortmann, Lars

    2016-04-01

    The hearts of patients with hypertrophic cardiomyopathy (HCM) show structural abnormalities other than isolated wall thickening. Recently, adult HCM patients have been found to have longer mitral valve leaflets than control subjects. The aim of the current study was to assess whether children and adolescents with HCM have similar measureable differences in mitral valve leaflet dimensions when compared to a healthy control group. Clinical and echocardiographic data from 46 children with myocardial hypertrophy and a phenotype and/or genotype consistent with sarcomeric HCM were reviewed. Cardiac magnetic resonance imaging studies were evaluated. The anterior and posterior mitral valve leaflet lengths and myocardial structure were compared to 20 healthy controls. The anterior mitral valve was longer in the HCM group than in the control group (28.4 ± 4.9 vs. 25.2 ± 3.6 mm in control patients, p = 0.013) as was the posterior mitral valve leaflet (16.3 ± 3.0 vs. 13.1 ± 2.3 mm for controls <0.0001). There was no correlation between the resting left ventricular outflow tract gradient and anterior mitral valve leaflet length, nor was the anterior mitral valve leaflet longer in those with systolic anterior motion of the mitral valve compared to those without (28.9 ± 6.1 vs. 28.1 ± 4.5 mm, p = 0.61). Children and adolescents with HCM have abnormally long mitral valve leaflets when compared with healthy control subjects. These abnormalities do not appear to result in, or be due to, obstruction to left ventricular outflow. The mechanism of this mitral valve elongation is not clear but appears to be independent of hemodynamic disturbances.

  5. Characteristics of hypertrophic pachymeningitis in patients with granulomatosis with polyangiitis.

    PubMed

    Choi, Hyun Ah; Lee, Mi Ji; Chung, Chin-Sang

    2017-02-20

    Hypertrophic pachymeningitis (HP) is an important neurologic complication of granulomatosis with polyangiitis (GPA, formerly Wegener's granulomatosis). The aim of this study is to investigate the clinical features, radiological findings, and diagnostic pitfalls of GPA-related HP. A retrospective chart review was performed to screen patients diagnosed with GPA at Samsung Medical Center between 1997 and 2016. Neurologic manifestation, laboratory findings, neuroimaging data, and clinical course were evaluated in all patients. Characteristics of patients with HP were compared to those of patients without HP. Sixty-five patients with GPA were identified. Twenty-five of these patients had central nervous system involvement. HP (N = 9, 36%) was the second most common radiologic finding. Other neurologic findings included stroke (N = 7, 28%) and granulomatous disease (N = 10, 40%). Patients with HP had lower incidences of systemic manifestations (N = 2, 22.2% vs. N = 38, 67.9%, p = 0.013 in the lung and N = 1, 11.1% vs. N = 28, 50.0%, p = 0.030 in the kidney) than those without HP. Six patients with GPA-related HP were MPO-ANCA positive (66.7%) and two had PR3-ANCA (22.2%). Most of the patients with HP presented with headache (N = 8, 88.9%) at a rate that is similar to those of primary headache disorders (migraine, tension-type, and stabbing) and other secondary headache disorders (postural type and meningitis). Patients with HP rarely had neurologic deficits (N = 3, 37.5%). Different clinical or radiologic features may be observed in GPA-related HP. Early recognition and accurate diagnosis of GPA-related HP are needed in addition to neuroimaging findings.

  6. Successful management of hypertrophic cardiomyopathy in a Matschie's tree kangaroo (Dendrolagus matschiei).

    PubMed

    Fredholm, Daniel V; Jones, Ashley E; Hall, Natalie H; Russell, Kathleen; Heard, Darryl J

    2015-03-01

    A 3-yr-old, intact male Matschie's tree kangaroo (Dendrolagus matschiei) was examined for a 1-wk history of intermittent lethargy and tachypnea. An echocardiogram revealed concentric hypertrophy of the left ventricular free wall and interventricular septum. These findings were compared to measurements from healthy Matschie's tree kangaroos, supporting a diagnosis of hypertrophic cardiomyopathy. At the time of publication, the patient has been managed for over 11.5 yr, using a combination of enalapril, furosemide, diltiazem, and diet modifications. Hypertrophic cardiomyopathy should be considered as a differential diagnosis in tree kangaroos exhibiting signs of cardiovascular or respiratory distress. This case represents the first report of antemortem diagnosis and successful management of hypertrophic cardiomyopathy in a Matschie's tree kangaroo.

  7. The presence of lysylpyridinoline in the hypertrophic cartilage of newly hatched chicks

    NASA Technical Reports Server (NTRS)

    Orth, M. W.; Martinez, D. A.; Cook, M. E.; Vailas, A. C.

    1993-01-01

    The presence of lysylpyridinoline (LP) as a nonreducible cross-link in appreciable quantities has primarily been limited to the mineralized tissues, bone and dentin. However, the results reported here show that LP is not only present in the hypertrophic cartilage of the tibiotarsus isolated from newly hatched broiler chicks, but it is approx. 4-fold as concentrated as hydroxylysylpyridinoline (HP). Bone and articular cartilage surrounding the hypertrophic cartilage do not contain measurable quantities of LP. Purified LP has a fluorescent scan similar to purified HP and literature values, confirming that we indeed were measuring LP. Also, the cartilage lesion produced by immature chondrocytes from birds with tibial dyschondroplasia had LP but the HP:LP ratio was > 1. Thus, the low HP:LP ratio could be a marker for hypertrophic cartilage in avians.

  8. Abnormal Head Position in Infantile Nystagmus Syndrome

    PubMed Central

    Noval, Susana; González-Manrique, Mar; Rodríguez-Del Valle, José María; Rodríguez-Sánchez, José María

    2011-01-01

    Infantile nystagmus is an involuntary, bilateral, conjugate, and rhythmic oscillation of the eyes which is present at birth or develops within the first 6 months of life. It may be pendular or jerk-like and, its intensity usually increases in lateral gaze, decreasing with convergence. Up to 64% of all patients with nystagmus also present strabismus, and even more patients have an abnormal head position. The abnormal head positions are more often horizontal, but they may also be vertical or take the form of a tilt, even though the nystagmus itself is horizontal. The aim of this article is to review available information about the origin and treatment of the abnormal head position associated to nystagmus, and to describe our treatment strategies. PMID:24533187

  9. Neonatal Abdominal Hemangiomatosis: Propranolol beyond Infantile Hemangioma.

    PubMed

    Nip, Siu Ying Angel; Hon, Kam Lun; Leung, Wing Kwan Alex; Leung, Alexander K C; Choi, Paul C L

    2016-01-01

    Hemangioma is the most common vascular tumor of infancy; presentation is often as cutaneous infantile hemangioma (IH). Cutaneous hemangioma is a clinical diagnosis. Most IHs follow a benign course, with complete involution without treatment in the majority of cases. Visceral hemangioma often involves the liver and manifests as a life-threatening disorder. Hepatic hemangiomas may be associated with high output cardiac failure, coagulopathy, and hepatomegaly which generally develop between 1 and 16 weeks of age. Mortality has been reportedly high without treatment. We report a rare case of a male infant with neonatal hemangiomatosis with diffuse peritoneal involvement, which mimicked a malignant-looking tumor on imaging, and discuss therapeutic options and efficacy. Propranolol is efficacious for IH but generally not useful for other forms of vascular hemangiomas, tumors, and malformations. In our case of neonatal peritoneal hemangiomatosis, propranolol appears to have halted the growth and possibly expedite the involution of the hemangiomatosis without other treatments.

  10. Infantile Periocular Haemangioma: Optimising the Therapeutic Response.

    PubMed

    Taylor, Robert H

    2016-06-01

    Oral propranolol is now established as the first-line treatment for infantile haemangiomas, and used in up to 20 % of all cases. Propranolol use in infants is most commonly instigated in a controlled environment to monitor for potential serious adverse events such as hypoglycaemia and hypotension. Two test doses are recommended, the first one of 300 μg/kg followed by 2-hourly monitoring. On the subsequent day, a further dose of 650 μg/kg is administered with the same monitoring. A dose of 2 mg/kg divided into three is started from the next day. Parents/carers need to be warned of common adverse effects, of which disturbed sleep is the commonest. Treatment is recommended for up to a year to avoid rebound growth and the need to restart the treatment.

  11. Multifocal infantile haemangioma: a diagnostic challenge.

    PubMed

    Torres, Erica; Rosa, João; Leaute-Labreze, Christine; Soares-de-Almeida, Luis

    2016-06-17

    We describe a case of a newborn who presented with multiple dark red macules that developed into red-to-purple papules associated with thrombocytopaenia. Abdominal ultrasound showed multiple hyperechoic papules and nodules. Endothelial cells from a skin biopsy stained positively for endothelial cell glucose transporter 1, which was consistent with a diagnosis of multifocal infantile haemangioma. At the age of 2 months, the child developed intestinal bleeding and anaemia. Upper and lower endoscopies showed no intestinal haemangiomas. Oral treatment with propranolol (3 mg/kg/day) resulted in complete involution of the skin and hepatic haemangiomas over the period of treatment, which lasted until the child was aged 15 months. This is a rare case of multifocal cutaneous haemangioma with hepatic and probable intestinal involvement, successfully treated with propranolol.

  12. Vitamin D metabolites in idiopathic infantile hypercalcaemia.

    PubMed Central

    Martin, N D; Snodgrass, G J; Cohen, R D; Porteous, C E; Coldwell, R D; Trafford, D J; Makin, H L

    1985-01-01

    Metabolites of vitamin D were measured in plasma from 83 patients with idiopathic infantile hypercalcaemia syndrome who were mentally handicapped but had normal calcium values at the time of the study. No significant difference was detected in the mean plasma concentrations of 25-hydroxyvitamin D2, 1,25-dihydroxyvitamin D, 24,25-dihydroxyvitamin D3, or 25,26-dihydroxyvitamin D3 between patients and age matched controls. The mean plasma concentration of 25-hydroxyvitamin D3 was significantly lower in patients than controls but this may be a secondary phenomenon related to less sunlight exposure. In addition, two hypercalcaemic patients with this syndrome were studied during the first year of life, and were found to have normal concentrations of vitamin D metabolites. These findings do not support a role for abnormal vitamin D metabolism in the pathogenesis of this syndrome. PMID:3879160

  13. A genetic and biologic classification of infantile spasms

    PubMed Central

    Paciorkowski, Alex R.; Thio, Liu Lin; Dobyns, William B.

    2011-01-01

    Infantile spasms are an age-dependent epilepsy that are highly associated with cognitive impairment, autism, and movement disorders. Previous classification systems have focused on a distinction between symptomatic and cryptogenic etiologies, and have not kept pace with the recent discoveries of mutations in genes in key pathways of central nervous system development in patients with infantile spasms. Children with certain genetic syndromes are much more likely to have infantile spasms, and we review the literature to propose a genetic classification of these disorders. Children with these genetic associations with infantile spasms also have phenotypes beyond epilepsy that may be explained by recent advances in the understanding of underlying biological mechanisms. We therefore also propose a biologic classification of the genes highly associated with infantile spasms, and articulate models for infantile spasms pathogenesis based on that data. The two best described pathways of pathogenesis are abnormalities in the gene regulatory network of GABAergic forebrain development, and abnormalities in molecules expressed at the synapse. We intend for these genetic and biologic classifications to be flexible, and hope that they will encourage much needed progress in syndrome recognition, clinical genetic testing, and ultimately the development of new therapies that target specific pathways of pathogenesis. PMID:22114996

  14. [Propranolol therapy for periocular and orbital infantile haemangiomas].

    PubMed

    Sterker, I; Tegetmeyer, H; Sorge, I; Weißer, M; Böhm, R

    2014-10-01

    In spite of the self-limiting natural course of infantile haemangiomas of the eyelids and orbit, the effects of amblyopia, compression of the optic nerve, and impairment of the aesthetic appearance may develop. Since the serendipitous discovery of the effects of propranolol, a non-selective beta-blocker, on infantile haemangioma in 2008, it has largely replaced the former standard treatments with corticosteroids, laser or surgical procedures. This review discusses the pathogenesis, classification, indication for treatment, and treatment options for infantile haemangiomas. In addition, the results of patients with infantile haemangiomas of the eyelids and orbit treated with systemic propranolol are shown. With additional confirmation of data, including a positive effect-risk-analysis, propranolol will potentially replace high-dose corticosteroids and surgery in the treatment of infantile haemangiomas in the eyelids and orbit. Further clinical studies are necessary to optimise the dosage, treatment period, and application modalities (oral or topical). In the future, propranolol accompanied with paediatric-cardiological monitoring should emerge as the first-line therapy for problematic infantile haemangiomas.

  15. The spectrum of soft tissue and skeletal abnormalities of hypertrophic osteoarthropathy.

    PubMed

    Pineda, C; Fonseca, C; Martinez-Lavin, M

    1990-05-01

    We review our radiographic experience with hypertrophic osteoarthropathy. Soft tissue abnormalities such as finger clubbing, "elephant feet" and cutis verticis gyrata are well appreciated by plain radiography. Hypertrophic osteoarthropathy is characterized by a bone remodeling process at the tip of the digits. In older patients it is manifested as tuftal hypertrophy whereas in younger individuals acroosteolysis takes place. Radiographic signs of inflammatory arthropathy are conspicuously absent. Periosteal proliferation is an orderly evolving process in 3 dimensions: in the number of affected bones, in the area of involvement of a given bone and in the shape of periostitis.

  16. In vitro mechanical compression induces apoptosis and regulates cytokines release in hypertrophic scars.

    PubMed

    Renò, Filippo; Sabbatini, Maurizio; Lombardi, Francesca; Stella, Maurizio; Pezzuto, Carla; Magliacani, Gilberto; Cannas, Mario

    2003-01-01

    Hypertrophic scars resulting from severe burns are usually treated by continuous elastic compression. Although pressure therapy reaches success rates of 60-85% its mechanisms of action are still poorly understood. In this study, apoptosis induction and release of interleukin-1beta (IL-1beta) and tumor necrosis factor-alpha (TNF-alpha) were evaluated in normal (n = 3) and hypertrophic (=7) scars from burns after in vitro mechanical compression. In the absence of compression (basal condition) apoptotic cells, scored using terminal deoxyribonucleotidyl transferase assay, were present after 24 hours in the derma of both normal scar (23 +/- 0.4% of total cell) and hypertrophic scar (11.3 +/- 1.4%). Mechanical compression (constant pressure of 35 mmHg for 24 hours) increased apoptotic cell percentage both in normal scar (29.5 +/- 0.4%) and hypertrophic scar (29 +/- 1.7%). IL-1beta released in the medium was undetectable in normal scar under basal conditions while in hypertrophic scar the IL-1beta concentration was 3.48 +/- 0.2 ng/g. Compression in hypertrophic scar-induced secretion of IL-1beta twofold higher compared to basal condition. (7.72 +/- 0.2 ng/g). TNF-alpha basal concentration measured in normal scar medium was 8.52 +/- 4.01 ng/g and compression did not altered TNF-alpha release (12.86 +/- 7.84 ng/g). TNF-alpha basal release was significantly higher in hypertrophic scar (14.74 +/- 1.42 ng/g) compared to normal scar samples and TNF-alpha secretion was diminished (3.52 +/- 0.97 ng/g) after compression. In conclusion, in our in vitro model, mechanical compression resembling the clinical use of elastocompression was able to strongly increase apoptosis in the hypertrophic scar derma as observed during granulation tissue regression in normal wound healing. Moreover, the observed modulation of IL-1beta and TNF-alpha release by mechanical loading could play a key role in hypertrophy regression induced by elastocompression.

  17. [The thickness/radius ratio (t/r) in patients with dilated and hypertrophic cardiomyopathy].

    PubMed

    Guadalajara, J F; Valenzuela, F; Martínez Sánchez, C; Huerta, D

    1990-01-01

    We studied 17 patients with cardiomyopathy (10 hypertrophic and 7 dilated). With two-dimensional echocardiography, we obtained a short axis view at the level of papillary muscle. We calculated the ratio between thickness (h), of ventricular wall and cavity's radius (r) in diastole and systole (h/r ratio). Hypertrophic cardiomyopathy has a high h/r ratio in diastole (inappropriate hypertrophy), hypercontractility and low and systolic wall stress. Dilated cardiomyopathy has a low diastolic h/r ratio (inadequate hypertrophy) with low contractility and elevated end-systolic, wall stress. We discuss the mechanisms and consequences of different patterns of hypertrophy on the ventricular performance.

  18. Assessment of maternal knowledge about infantile colic in Saudi Arabia

    PubMed Central

    Al-Shehri, Hassan; Al-Mogheer, Bader H; Al-Sawyan, Talal H; Abualalaa, Abdulaziz Badr; Jarrah, Omar Ahmed; Jabari, Mosleh; Al-Faris, Abdullah

    2016-01-01

    Introduction The infantile colic is a difficult experience met by parents in the first few months of an infant’s life. This may lead to increased discomfort for infants as well as psychological distress for mothers. This study aimed at assessing the baseline knowledge of mothers in Saudi Arabia about infantile colic mainly in regard to the etiology and management. Methods In this cross-sectional study, a questionnaire was distributed among mothers in six primary healthcare centers (PHCC) in Riyadh, Saudi Arabia, during their visit for immunization clinics in 2016. The questionnaire consisted of two domains for determining the sociodemography characteristics and the maternal knowledge of participants about infantile colic. SPSS version 20 and chi-square test were used for data analysis. Results A total of 230 mothers completed the survey questionnaire. Of these, 208 participants were Saudis. The majority of the participants were in the age group of 18–29 years (42.6%). The average age of the infants in this study was found to be 5.75±4.26 months. Eighty percent replied that they did not have any previous knowledge of infantile colic; 42.6% mothers believed that the causes of infantile colic were unclear and might involve several factors; 36% of the participants perceived milk allergy as the attributing cause for infantile colic. The source of knowledge about infantile colic was mainly through experiences of dealing with previous siblings who have the same issue (34.4%); 27.4% of mothers prefer the use of herbal medicines to treat this condition. Conclusions It is recommended that health education needs to be provided to mothers at outpatient clinics during their antenatal hospital visits. This reduces the discomfort of infant and distress in mothers. PMID:28163842

  19. Left Atrial Mechanical Function and Global Strain in Hypertrophic Cardiomyopathy

    PubMed Central

    Yoon, Yeonyee E.; Kim, Hack-Lyoung; Lee, Seung-Pyo; Kim, Hyung-Kwan; Kim, Yong-Jin; Cho, Goo-Yeong; Zo, Joo-Hee; Sohn, Dae-Won

    2016-01-01

    Background Atrial fibrillation is the most common arrhythmia and is associated with adverse outcomes in hypertrophic cardiomyopathy (HCM). Although left atrial (LA) remodeling and dysfunction are known to associate with the development of atrial fibrillation in HCM, the changes of the LA in HCM patients remain unclear. This study aimed to evaluate the changes in LA size and mechanical function in HCM patients compared to control subjects and to determine the characteristics of HCM associated with LA remodeling and dysfunction. Methods Seventy-nine HCM patients (mean age, 54 ± 11 years; 76% were men) were compared to 79 age- and sex-matched controls (mean age, 54 ± 11 years; 76% were men) and 20 young healthy controls (mean age, 33 ± 5 years; 45% were men). The LA diameter, volume, and mechanical function, including global strain (ε), were evaluated by 2D-speckle tracking echocardiography. The phenotype of HCM, maximal left ventricular (LV) wall thickness, LV mass, and presence and extent of late gadolinium enhancement (LGE) were evaluated with cardiac magnetic resonance imaging. Results HCM patients showed increased LA volume index, impaired reservoir function, and decreased LA ε compared to the control subjects. When we divided the HCM group according to a maximal LA volume index (LAVImax) of 38.7 ml/m2 or LA ε of 21%, no significant differences in the HCM phenotype and maximal LV wall thickness were observed for patients with LAVImax >38.7 ml/m2 or LA ε ≤21%. Conversely, the LV mass index was significantly higher both in patients with maximal LA volume index >38.7 ml/m2 and with LA ε ≤21% and was independently associated with LAVImax and LA ε. Although the LGE extent was increased in patients with LA ε ≤21%, it was not independently associated with either LAVImax or LA ε. Conclusions HCM patients showed progressed LA remodeling and dysfunction; the determinant of LA remodeling and dysfunction was LV mass index rather than LV myocardial fibrosis

  20. DDDR pacing for symptomatic patients with hypertrophic obstructive cardiomyopathy

    PubMed Central

    Achterberg, H.J.; Scheffer, M.G.; van Mechelen, R.; Kofflard, M.J.M.; ten Cate, F.J.

    2002-01-01

    Background Hypertrophic obstructive cardiomyopathy (HOCM) is a primary cardiac disorder with a heterogeneous expression. When medical therapy fails in patients with symptomatic HOCM, three additional therapeutic strategies exist: ventricular septal myectomy, alcohol-induced percutaneous transluminal septal myocardial ablation (PTSMA) of the first septal branch of the anterior descending artery and pacemaker implantation. In this paper we present the results of seven patients in whom a dual-chamber pacemaker was implanted to reduce the gradient in the left ventricular outflow tract (LVOT) and to relieve their symptoms. Methods In patients with drug refractory symptomatic HOCM, not eligible for surgery, pacemaker therapy was recommended. Symptomatic HOCM was defined as symptoms of angina and dyspnoea, functional class NYHA 3-4 and a resting LVOT gradient during Doppler echocardiography of more than 2.75 m/s (30 mmHg). In these patients, a dual-chamber pacemaker was implanted with a right ventricular lead positioned in the right ventricular apex and an atrial lead positioned in the right atrial appendage. In all patients the AV setting was programmed between 50 and 100 ms, using Doppler echocardiography to determine the optimal filling and to ensure ventricular capture. Results A statistically significant reduction of the LVOT gradient was observed in all patients. The pre-implantation gradient in the LVOT measured by Doppler echocardiography varied from 3-5.8 m/s with a mean of 4.7±1.1 m/s. The post-implantation gradient varied from 1.4-2.6 m/s with a mean of 1.9±0.4 m/s (p<0.001). Symptomatic improvement was present in all patients. NYHA functional class went from 3-4 (mean 3.1±0.5) pre-implantation to 1-2 mean (1.3±0.4) after implantation (p<0.001). During a mean follow-up of 2.3±1.1 years, the improvement in functional class was maintained. Conclusion Our preliminary results demonstrate that dual-chamber pacing is an effective and safe treatment for

  1. Quantitative measurement of hypertrophic scar: intrarater reliability, sensitivity, and specificity.

    PubMed

    Nedelec, Bernadette; Correa, José A; Rachelska, Grazyna; Armour, Alexis; LaSalle, Léo

    2008-01-01

    The comparison of scar evaluation over time requires measurement tools with acceptable intrarater reliability and the ability to discriminate skin characteristics of interest. The objective of this study was to evaluate the intrarater reliability and sensitivity and specificity of the Cutometer, the Mexameter, and the DermaScan C relative to the modified Vancouver Scar Scale (mVSS) in patient-matched normal skin, normal scar (donor sites), and hypertrophic scar (HSc). A single investigator evaluated four tissue types (severe HSc, less severe HSc, donor site, and normal skin) in 30 burn survivors with all four measurement tools. The intraclass correlation coefficient (ICC) for the Cutometer was acceptable (> or =0.75) for the maximum deformation measure for the donor site and normal skin (>0.78) but was below the acceptable range for the HSc sites and all other parameters. The ICC for the Mexameter erythema (>0.75) and melanin index (>0.89) and the DermaScan C total thickness measurement (>0.82) were acceptable for all sites. The ICC for the total of the height, pliability, and vascularity subscales of the mVSS was acceptable (0.81) for normal scar but below the acceptable range for the scar sites. The DermaScan C was clearly able to discriminate HSc from normal scar and normal skin based on the total thickness measure. The Cutometer was less discriminating but was still able to discriminate HSc from normal scar and normal skin. The Mexameter erythema index was not a good discriminator of HSc and normal scar. Receiver operating characteristic curves were generated to establish the best cutoff point for the DermaScan C total thickness and the Cutometer maximum deformation, which were 2.034 and 0.387 mm, respectively. This study showed that although the Cutometer, the DermaScan C, and the Mexameter have measurement properties that make them attractive substitutes for the mVSS, caution must be used when interpreting results since the Cutometer has a ceiling effect when

  2. MicroRNA 181b regulates decorin production by dermal fibroblasts and may be a potential therapy for hypertrophic scar.

    PubMed

    Kwan, Peter; Ding, Jie; Tredget, Edward E

    2015-01-01

    Hypertrophic scarring is a frequent fibroproliferative complication following deep dermal burns leading to impaired function and lifelong disfigurement. Decorin reduces fibrosis and induces regeneration in many tissues, and is significantly downregulated in hypertrophic scar and normal deep dermal fibroblasts. It was hypothesized that microRNAs in these fibroblasts downregulate decorin and blocking them would increase decorin and may prevent hypertrophic scarring. Lower decorin levels were found in hypertrophic scar as compared to normal skin, and in deep as compared to superficial dermis. A decorin 3' un-translated region reporter assay demonstrated microRNA decreased decorin in deep dermal fibroblasts, and microRNA screening predicted miR- 24, 181b, 421, 526b, or 543 as candidates. After finding increased levels of mir-181b in deep dermal fibroblasts, it was demonstrated that TGF-β1 stimulation decreased miR-24 but increased miR-181b and that hypertrophic scar and deep dermis contained increased levels of miR-181b. By blocking miR-181b with an antagomiR, it was possible to increase decorin protein expression in dermal fibroblasts. This suggests miR-181b is involved in the differential expression of decorin in skin and wound healing. Furthermore, blocking miR-181b reversed TGF-β1 induced decorin downregulation and myofibroblast differentiation in hypertrophic scar fibroblasts, suggesting a potential therapy for hypertrophic scar.

  3. Primary hypertrophic osteoarthropathy with myelofibrosis and anemia: a case report and review of literature

    PubMed Central

    Li, Sheyu; Li, Qianrui; Wang, Qin; Chen, Decai; Li, Jianwei

    2015-01-01

    Primary hypertrophic osteoarthropathy (PHO) is a rare and usually benign disorder of bone and connective tissue growth. Here we present a 28-year-old male patient presenting to our hospital with PHO and symptomatic anemia. Bone marrow biopsy suggested myelofibrosis, a serious complication of PHO, which is often neglected upon admission, but may lead to life-threatening anemia. PMID:25785156

  4. Marked left ventricular hypertrophy mimicking hypertrophic cardiomyopathy associated with steroid therapy for congenital adrenal hyperplasia.

    PubMed

    Scirè, Giuseppe; D'Anella, Giorgio; Cristofori, Laura; Mazzuca, Valentina; Cianfarani, Stefano

    2007-06-01

    We describe a child treated with high-dose steroid therapy for congenital adrenal hyperplasia who showed marked left ventricular hypertrophy mimicking hypertrophic cardiomyopathy associated with steroid therapy for congenital adrenal hyperplasia. Cardiomyopathy reversed completely when an appropriate steroid therapeutic regimen was established.

  5. Dietary copper supplementation reverses hypertrophic cardiomyopathy induced by chronic pressure overload in mice

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Sustained pressure overload causes cardiac hypertrophy and the transition to heart failure. We show here that dietary supplementation with physiologically relevant levels of copper (Cu) reverses pre-established hypertrophic cardiomyopathy in the presence of pressure overload induced by ascending aor...

  6. [Molecular targets and novel pharmacological options to prevent myocardial hypertrophic remodeling].

    PubMed

    Coppini, Raffaele; Ferrantini, Cecilia; Poggesi, Corrado; Mugelli, Alessandro; Olivotto, Iacopo

    2016-03-01

    Myocardial hypertrophic remodeling is a pathophysiological feature of several cardiac conditions and is the hallmark of hypertrophic cardiomyopathy (HCM), the most common monogenic inherited disease of the heart. In recent years, preclinical and clinical studies investigated the underlying molecular mechanisms and intracellular signaling pathways involved in pathologic cardiomyocyte hypertrophy and highlighted a number of possible molecular targets of therapy aimed at preventing its development. Early prevention of myocardial hypertrophic remodeling is particularly sought after in HCM, as current therapeutic strategies are unable to remove the primary cause of disease, i.e. the disease-causing gene mutation. Studies on transgenic animal models or human myocardial samples from patients with HCM identified intracellular calcium overload as a central mechanism driving pathological hypertrophy. In this review, we analyze recent preclinical and clinical studies on animal models and patients with HCM aimed at preventing or modifying hypertrophic myocardial remodeling. Mounting evidence shows that prevention of pathological hypertrophy is a feasible strategy in HCM and will enter the clinical practice in the near future. Considering the close mechanistic similarities between HCM and secondary hypertrophy, these studies are also relevant for the common forms of cardiac hypertrophy, such as hypertensive or valvular heart disease.

  7. Galangin inhibits hypertrophic scar formation via ALK5/Smad2/3 signaling pathway.

    PubMed

    Zhang, Yifan; Shan, Shengzhou; Wang, Jing; Cheng, Xinyu; Yi, Bo; Zhou, Jia; Li, Qingfeng

    2016-02-01

    Hypertrophic scar (HS) is characterized by excessive fibrosis associated with aberrant function of fibroblasts. Currently, no satisfactory drug has been developed to treat the disease. Here we found that a flavonoid natural product, galangin, could significantly attenuate hypertrophic scar formation in a mechanical load-induced mouse model. Both in vivo and in vitro studies demonstrated that galangin remarkably inhibited collagen production, proliferation, and activation of fibroblasts. Besides, galangin suppressed the contractile ability of hypertrophic scar fibroblasts. Further Western blot analysis revealed that galangin dose-dependently down-regulated Smad2 and Smad3 phosphorylation. Such bioactivity of galangin resulted from its selective targeting to the activin receptor-like kinase 5 (ALK5) was demonstrated by ALK5 knockdown and over-expression experiments. Taken together, this compound could simultaneously inhibit both the accumulation of collagen and abnormal activation/proliferation of fibroblasts, which were the two pivotal factors for hypertrophic scar formation, thus suggesting that galangin serves as a potential agent for treatment of HS or other fibroproliferative disorders.

  8. [Apical hypertrophic myocardiopathy. Report of the first case identified on the American continent].

    PubMed

    Zanoniani, C; Guadalajara, J F; Gil, M; Medrano, G A; Vargas, J; Salazar, E

    1981-01-01

    What appears to be the first case of hypertrophic apical myocardiography described in the western hemisphere is presented in this report. The diagnosis was confirmed by angiocardiography and echocardiography. The electrocardiogram showed the characteristic giant T waves. It is of interest that the coronary radioangiography suggested alterations in the microcirculation which could explain the striking electrocardiographic pattern of subepicardial ischemia seen in these patients.

  9. [Right ventricular involvement in hypertrophic cardiomyopathy. A case report and brief review of the literature].

    PubMed

    Comella, Alessandro; Magnacca, Massimo; Gistri, Roberto; Lombardi, Massimo; Neglia, Danilo; Poddighe, Rosa; Pesola, Antonio

    2004-02-01

    A clinical case of non-obstructive hypertrophic cardiomyopathy with involvement of the right ventricle is reported. The patient was a 42-year-old male with symptoms suggesting an effort angina of recent onset. The diagnosis was established by echocardiography, which showed asymmetric hypertrophy of the interventricular septum (20 mm), hypertrophy of the right ventricular free wall, and severe hypertrophy of the septal papillary muscle of the tricuspid valve. The patient underwent a complete diagnostic evaluation, including exercise stress test, Holter monitoring, magnetic resonance, myocardial tomoscintigraphy and complete hemodynamic assessment. Medical treatment with atenolol 50 mg day was started; at 1-year follow-up the patient's clinical conditions are good, with decrease of anginal episodes. The literature review elicits the paucity of information about this condition, despite a frequent involvement of both ventricles in hypertrophic obstructive cardiomyopathy. The case reported shows two atypical aspects: a) the involvement of the right ventricle in non-obstructive hypertrophic cardiomyopathy is anecdotal; b) this pattern of hypertrophy (right ventricular free wall/septal papillary muscle) has never been previously reported. Right ventricular involvement in patients with hypertrophic cardiomyopathy must be carefully investigated, because it may be more frequent than conventionally deemed.

  10. Enhanced in Vivo Delivery of 5-Fluorouracil by Ethosomal Gels in Rabbit Ear Hypertrophic Scar Model

    PubMed Central

    Wo, Yan; Zhang, Zheng; Zhang, Yixin; Zhang, Zhen; Wang, Kan; Mao, Xiaohui; Su, Weijie; Li, Ke; Cui, Daxiang; Chen, Jun

    2014-01-01

    Applying Ethosomal Gels (EGs) in transdermal drug delivery systems has evoked considerable interest because of their good water-solubility and biocompatibility. However, there has not been an explicit description of applying EGs as a vehicle for hypertrophic scars treatment. Here, a novel transdermal EGs loaded with 5-fluorouracil (5-FU EGs) was successfully prepared and characterized. The stability assay in vitro revealed that 5-FU EGs stored for a period of 30 days at 4 ± 1 °C had a better size stability than that at 25 ± 1 °C. Furthermore, using confocal laser scanning microscopy, EGs labeled with Rhodamine 6 G penetrated into the deep dermis of the hypertrophic scar within 24 h in the rabbit ear hypertrophic model suggested that the EGs were an optional delivery carrier through scar tissues. In addition, the value of the Scar Elevation Index (SEI) of 5-FU EGs group in the rabbit ear scar model was lower than that of 5-FU Phosphate Buffered Saline gel and Control groups. To conclude, these results suggest that EGs delivery system loaded 5-fluorouracil is a perfect candidate drug for hypertrophic scars therapy in future. PMID:25501333

  11. Keloid and Hypertrophic Scars Are the Result of Chronic Inflammation in the Reticular Dermis

    PubMed Central

    Ogawa, Rei

    2017-01-01

    Keloids and hypertrophic scars are caused by cutaneous injury and irritation, including trauma, insect bite, burn, surgery, vaccination, skin piercing, acne, folliculitis, chicken pox, and herpes zoster infection. Notably, superficial injuries that do not reach the reticular dermis never cause keloidal and hypertrophic scarring. This suggests that these pathological scars are due to injury to this skin layer and the subsequent aberrant wound healing therein. The latter is characterized by continuous and histologically localized inflammation. As a result, the reticular layer of keloids and hypertrophic scars contains inflammatory cells, increased numbers of fibroblasts, newly formed blood vessels, and collagen deposits. Moreover, proinflammatory factors, such as interleukin (IL)-1α, IL-1β, IL-6, and tumor necrosis factor-α are upregulated in keloid tissues, which suggests that, in patients with keloids, proinflammatory genes in the skin are sensitive to trauma. This may promote chronic inflammation, which in turn may cause the invasive growth of keloids. In addition, the upregulation of proinflammatory factors in pathological scars suggests that, rather than being skin tumors, keloids and hypertrophic scars are inflammatory disorders of skin, specifically inflammatory disorders of the reticular dermis. Various external and internal post-wounding stimuli may promote reticular inflammation. The nature of these stimuli most likely shapes the characteristics, quantity, and course of keloids and hypertrophic scars. Specifically, it is likely that the intensity, frequency, and duration of these stimuli determine how quickly the scars appear, the direction and speed of growth, and the intensity of symptoms. These proinflammatory stimuli include a variety of local, systemic, and genetic factors. These observations together suggest that the clinical differences between keloids and hypertrophic scars merely reflect differences in the intensity, frequency, and duration of

  12. Congenitally Impaired Disparity Vergence in Children With Infantile Esotropia

    PubMed Central

    Kelly, Krista R.; Felius, Joost; Ramachandran, Santoshi; John, Blesson A.; Jost, Reed M.; Birch, Eileen E.

    2016-01-01

    Purpose We examined whether congenital impairment of disparity vergence in infantile esotropia (ET) exists in children with short duration ET (≤3 months) compared with long-duration ET and healthy controls. A short duration of misalignment would allow for a substantial amount of balanced binocular input during the critical period of binocular disparity development. Methods A total of 19 children aged 5 to 12 years and treated for infantile ET with a short (≤3 months; n = 10) or long (≥5 months; n = 9) duration of constant misalignment before alignment were enrolled. A total of 22 healthy control children were enrolled as a comparison group. Eye movements during disparity vergence and accommodative vergence were recorded using an EyeLink 1000 binocular eye tracker. Mean response gain was compared between and within groups to determine the effect of duration of misalignment and viewing condition. Results Compared with controls, children with short (P = 0.002) and long (P < 0.001) duration infantile ET had reduced response gains for disparity vergence, but not for accommodative vergence (P = 0.19). Conclusions Regardless of duration of misalignment, children with infantile ET had reduced disparity vergence, consistent with a congenital impairment of disparity vergence in infantile ET. Although early correction of misalignment increases the likelihood that some level of binocular disparity sensitivity will be present, normal levels may never be achieved. PMID:27159445

  13. A new 4D trajectory-based approach unveils abnormal LV revolution dynamics in hypertrophic cardiomyopathy.

    PubMed

    Madeo, Andrea; Piras, Paolo; Re, Federica; Gabriele, Stefano; Nardinocchi, Paola; Teresi, Luciano; Torromeo, Concetta; Chialastri, Claudia; Schiariti, Michele; Giura, Geltrude; Evangelista, Antonietta; Dominici, Tania; Varano, Valerio; Zachara, Elisabetta; Puddu, Paolo Emilio

    2015-01-01

    The assessment of left ventricular shape changes during cardiac revolution may be a new step in clinical cardiology to ease early diagnosis and treatment. To quantify these changes, only point registration was adopted and neither Generalized Procrustes Analysis nor Principal Component Analysis were applied as we did previously to study a group of healthy subjects. Here, we extend to patients affected by hypertrophic cardiomyopathy the original approach and preliminarily include genotype positive/phenotype negative individuals to explore the potential that incumbent pathology might also be detected. Using 3D Speckle Tracking Echocardiography, we recorded left ventricular shape of 48 healthy subjects, 24 patients affected by hypertrophic cardiomyopathy and 3 genotype positive/phenotype negative individuals. We then applied Generalized Procrustes Analysis and Principal Component Analysis and inter-individual differences were cleaned by Parallel Transport performed on the tangent space, along the horizontal geodesic, between the per-subject consensuses and the grand mean. Endocardial and epicardial layers were evaluated separately, different from many ecocardiographic applications. Under a common Principal Component Analysis, we then evaluated left ventricle morphological changes (at both layers) explained by first Principal Component scores. Trajectories' shape and orientation were investigated and contrasted. Logistic regression and Receiver Operating Characteristic curves were used to compare these morphometric indicators with traditional 3D Speckle Tracking Echocardiography global parameters. Geometric morphometrics indicators performed better than 3D Speckle Tracking Echocardiography global parameters in recognizing pathology both in systole and diastole. Genotype positive/phenotype negative individuals clustered with patients affected by hypertrophic cardiomyopathy during diastole, suggesting that incumbent pathology may indeed be foreseen by these methods. Left

  14. Anti-inflammatory cytokine TSG-6 inhibits hypertrophic scar formation in a rabbit ear model.

    PubMed

    Wang, Hui; Chen, Zhao; Li, Xiao-Jing; Ma, Li; Tang, Yue-Ling

    2015-03-15

    Hypertrophic scars are characterized by excessive fibrosis and extracellular matrix (ECM) deposition and can be functionally and cosmetically problematic; however, there are few satisfactory treatments for controlling hypertrophic scars. The inflammatory cells and cytokines involved in excessive inflammation during wound healing facilitate fibroblast proliferation and collagen deposition, leading to pathologic scar formation. TSG-6 exhibits anti-inflammatory activity. This study examined the effect of recombinant TSG-6 on inflammation in hypertrophic scars using a rabbit ear model. Six 7-mm, full-thickness, circular wounds were made on the ears of 12 rabbits. TSG-6 and PBS were intradermally injected into the right and left ear wounds, respectively. The methods of TEM and TUNEL were used to detect fibroblast apoptosis. The expressions of inflammatory factors: IL-1β, IL-6 and TNF-α, were detected by immunohistochemistry and real time polymerase chain reaction. Collagen I and III expression detected by immunohistochemistry and Masson׳s trichrome staining and SEI (scar elevation index) was used to evaluate the extent of scarring. TSG-6 injection mitigated the formation of a hypertrophic scar in the rabbit ear. TSG-6-treated wounds exhibited decreased inflammation compared with the control group, as evidenced by the lower levels of IL-1β, IL-6, TNF-α and MPO. The SEI and the synthesis of collagens I and III were significantly decreased in the TSG-6-treated scars compared with control scars. The apoptosis rate was higher in the TSG-6-treated scars. TSG-6 exhibited anti-inflammatory effects during the wound healing process and cicatrization and significantly diminished hypertrophic scar formation in a rabbit ear model.

  15. Comparative effect and safety of verapamil in keloid and hypertrophic scar treatment: a meta-analysis

    PubMed Central

    Li, Zhouna; Jin, Zhehu

    2016-01-01

    Background Keloids and hypertrophic scars are the most common types of pathological scarring. Traditionally, keloids have been considered as a result of aberrant wound healing, involving excessive fibroblast participation that is characterized by hyalinized collagen bundles. However, the usefulness of this characterization has been questioned. In recent years, studies have reported the appropriate use of verapamil for keloids and hypertrophic scars. Methods Searches were conducted on the databases Medline, Embase, Cochrane, PubMed, and China National Knowledge Infrastructure from 2006 to July 2016. State12.0 was used for literature review, data extraction, and meta-analysis. Treatment groups were divided into verapamil and nonverapamil group. Nonverapamil group includes steroids and intense pulsed light (IPL) therapy. Total effective rates include cure rate and effective rate. Cure: skin lesions were completely flattened, became soft and symptoms disappeared. Efficacy: skin lesions subsided, patient significantly reduced symptoms. Inefficient definition of skin was progression free or became worse. Random-effects model was used for the meta-analysis. Results Six studies that included 331 patients with keloids and hypertrophic scars were analyzed. Analysis of the total effective rate of skin healing was performed. The total effective rates in the two groups were 54.07% (verapamil) and 53.18% (nonverapamil), respectively. The meta-analysis showed that there was no difference between the two groups. We also compared the adverse reactions between the verapamil treatment group and the steroids treatment group in two studies, and the result indicated that the verapamil group showed less adverse reactions. Conclusion There were no differences between the application of verapamil and nonverapamil group in keloids and hypertrophic scars treatment. Verapamil could act as an effective alternative modality in the prevention and treatment of keloid and hypertrophic scars. A

  16. Alkaloids from Mahonia bealei posses anti-H⁺/K⁺-ATPase and anti-gastrin effects on pyloric ligation-induced gastric ulcer in rats.

    PubMed

    Zhang, Su-Li; Li, Hui; He, Xin; Zhang, Run-Qi; Sun, Yu-He; Zhang, Chun-Feng; Wang, Chong-Zhi; Yuan, Chun-Su

    2014-09-25

    The purpose of this study was to investigate the underlying mechanism(s) of the total alkaloids (TA) from Mahonia bealei in treating pyloric ligation-induced gastric ulcers in rats. Animals were sacrificed after 19 h of the ligation. Gastric acid, peptic activities, mucin levels, H(+)/K(+)-ATPase activities and the gastrin level were analyzed. To improve the accuracy of the observations, IPP 6.0 software was introduced to measure the area of ulcer. TA (18.56 mg/kg/day, i.g.) showed an antiulcer effect by significantly decreasing the gastric ulcer areas (11.28 mm(2)) compared with model group (26.36 mm(2)). The TA ulcer inhibition ratio was 57.2%, compared with the effect of the positive control, omeprazole (62.96%). The results also showed that TA had a significant effect in inhibiting the release of H(+)/K(+)-ATPase, reducing the content of gastrin and decreasing gastric acidity on experimental animals. However, the TA had no significant effects on gastric mucus secretion and pepsin activity. Data indicated that TA had gastric ulcer protective effects by modulating the H(+)/K(+)-ATPase activity and gastrin level. TA has a potential to be developed as a pharmacological agent for the treatment of gastric ulcers.

  17. [Infantile anorexia: from birth to childhood].

    PubMed

    Poinso, F; Viellard, M; Dafonseca, D; Sarles, J

    2006-05-01

    Young child's anorexia (0-4 years) may have organic or psychological origin, when parents-child relationships are concerned. The most complex and earliest forms often have unspecified aetiology. Psychopathological classifications, which emphasize the mother-child relationships, are essential reference marks. But there is now a consensus in the definitions: the diagnosis of infantile anorexia requires criteria of acute or chronic malnutrition. We mainly distinguish anorexia by early disorder of homeostasis, anorexia resulting from serious disorder of attachment, anorexia by disorder of mother-child interactions, and finally early and complex anorexia, mixing an organic vulnerability and a bonding trouble, which can be secondary. Treatments differ according to the selected aetiology. Even if the origin is not mainly the fact of a relational mother-child dysfunction, parents-child's relations require a support to avoid aggravation by interactive vicious circles (force feeding). More than other diseases of early childhood, feeding disorders require a good knowledge of the working hypotheses both in the field of the paediatrics and the child psychiatry.

  18. When to stop propranolol for infantile hemangioma.

    PubMed

    Chang, Lei; Gu, Yifei; Yu, Zhang; Ying, Hanru; Qiu, Yajing; Ma, Gang; Chen, Hui; Jin, Yunbo; Lin, Xiaoxi

    2017-02-22

    There is no definitive conclusion regarding the optimal timing for terminating propranolol treatment for infantile hemangioma (IH). A total of 149 patients who underwent detailed color Doppler ultrasound examination were included in this study. The characteristics and propranolol treatment of all patients were summarized and analyzed. Patients were divided into two groups according to the lesion regression rate. Among the 149 patients, 38 were assigned to the complete regression group, and 111 were assigned to the partial regression group. The age at which propranolol treatment started, duration of follow-up after treatment discontinuation and rate of adverse events were not significantly different between the two groups. The duration of oral propranolol treatment was shorter in the complete regression group. The age at which propranolol was terminated was younger in the complete regression group, and this group had a lower recurrence rate. Propranolol is safe and effective for the treatment of IHs that require intervention, but it should be stopped at an appropriate time, which is determined primarily by the lesion regression rate after propranolol treatment. Ultrasound is helpful in determining when to stop propranolol for IH.

  19. When to stop propranolol for infantile hemangioma

    PubMed Central

    Chang, Lei; Gu, Yifei; Yu, Zhang; Ying, Hanru; Qiu, Yajing; Ma, Gang; Chen, Hui; Jin, Yunbo; Lin, Xiaoxi

    2017-01-01

    There is no definitive conclusion regarding the optimal timing for terminating propranolol treatment for infantile hemangioma (IH). A total of 149 patients who underwent detailed color Doppler ultrasound examination were included in this study. The characteristics and propranolol treatment of all patients were summarized and analyzed. Patients were divided into two groups according to the lesion regression rate. Among the 149 patients, 38 were assigned to the complete regression group, and 111 were assigned to the partial regression group. The age at which propranolol treatment started, duration of follow-up after treatment discontinuation and rate of adverse events were not significantly different between the two groups. The duration of oral propranolol treatment was shorter in the complete regression group. The age at which propranolol was terminated was younger in the complete regression group, and this group had a lower recurrence rate. Propranolol is safe and effective for the treatment of IHs that require intervention, but it should be stopped at an appropriate time, which is determined primarily by the lesion regression rate after propranolol treatment. Ultrasound is helpful in determining when to stop propranolol for IH. PMID:28225076

  20. Malassezia furfur in infantile seborrheic dermatitis.

    PubMed

    Wananukul, Siriwan; Chindamporn, Ariya; Yumyourn, Poomjit; Payungporn, Sunchai; Samathi, Chanchuree; Poovorawan, Yong

    2005-01-01

    Our objective was to study both incidence and various strains of Malassezia in infantile seborrheic dermatitis (ISD). Sixty infants between 2 weeks and 2 years old with clinical diagnosis of ISD at the Department of Pediatrics, King Chulalongkorn Memorial Hospital from May 2002 to April 2003 were recruited. Malassezia spp. were isolated from cultured skin samples of the patients, genomic DNA was extracted and the ITS1 rDNA region was amplified. The PCR product was examined by agarose gel electrophoresis and DNA sequences were determined. The ITS1 sequences were also subjected to phylogenetic analysis and species identification. ISD is most commonly found in infants below the age of 2 months (64%), followed by those between 2 and 4 months (28%) old. Cultures yielded yeast-like colonies in 15 specimens. PCR yielded 200-bp products (Candida) in 3 patients and 300-bp products (Malassezia furfur) in 12 patients (18%). Sugar fermentation using API 20C aux performed on the three 200-bp PCR products yielded Candida species. M. furfur was the only Malassezia recovered from skin scrapings of children with ISD.

  1. Biomarkers: important clues to the pathogenesis of infantile haemangioma and their clinical significance.

    PubMed

    Jia, Jun; Zhao, Yi Fang

    2010-01-01

    Infantile haemangioma is the most common tumour of infancy, yet the pathogensis of this lesion remains unknown and the predictable life cycle is poorly understood. Though much new information on infantile haemangioma has emerged over the past decade, researchers continue to debate the fundamental features; including cells of origin, nonrandom distribution, and mechanisms regulating the sometimes explosive growth and slow involution. The development of biomarkers has shed light on the pathogenesis and management of infantile haemangioma. Several useful biomarkers and their suggestions as to the aetiology of infantile haemangioma are reviewed. In addition, the application in clinical diagnosis and choice of treatment methods of infantile haemangioma is summarised.

  2. Effect of captopril on infantile haemangiomas: a retrospective case series.

    PubMed

    Christou, Elizabeth M; Wargon, Orli

    2012-08-01

    The mechanism of action of beta adrenergic blockers in the involution of infantile haemangioma (IH) remains unclear. It has been proposed that the renin-angiotensin pathway may play a role. We present a retrospective case series of 17 patients with IH who were treated with oral corticosteroid therapy and developed hypertension requiring treatment with the angiotensin converting enzyme inhibitor, captopril. All patients, with written documentation, demonstrated an improvement in their lesion at the start of oral corticosteroid therapy (n = 14). Captopril alone did not sustain the corticosteroid-induced involution with a documented worsening of infantile haemangioma in seven out of 12 patients (58%).

  3. The combined use of cryosurgery and intralesional injections of suspensions of fluorinated adrenocorticosteroids for reducing keloids and hypertrophic scars.

    PubMed

    Ceilley, R I; Babin, R W

    1979-01-01

    Freezing with liquid nitrogen in the conventional manner of cryosurgery followed immediately by injection of a suspension of a fluorinated adrenocorticosteroid is an effective way of treating keloids and hypertrophic scars. Details of the method are given.

  4. Hematopoietic stem cell transplantation for infantile osteopetrosis

    PubMed Central

    Fasth, Anders L.; Le Rademacher, Jennifer; He, Wensheng; Boelens, Jaap Jan; Horwitz, Edwin M.; Al-Seraihy, Amal; Ayas, Mouhab; Bonfim, Carmem M.; Boulad, Farid; Lund, Troy; Buchbinder, David K.; Kapoor, Neena; O’Brien, Tracey A.; Perez, Miguel A. Diaz; Veys, Paul A.; Eapen, Mary

    2015-01-01

    We report the international experience in outcomes after related and unrelated hematopoietic transplantation for infantile osteopetrosis in 193 patients. Thirty-four percent of transplants used grafts from HLA-matched siblings, 13% from HLA-mismatched relatives, 12% from HLA-matched, and 41% from HLA-mismatched unrelated donors. The median age at transplantation was 12 months. Busulfan and cyclophosphamide was the most common conditioning regimen. Long-term survival was higher after HLA-matched sibling compared to alternative donor transplantation. There were no differences in survival after HLA-mismatched related, HLA-matched unrelated, or mismatched unrelated donor transplantation. The 5- and 10-year probabilities of survival were 62% and 62% after HLA-matched sibling and 42% and 39% after alternative donor transplantation (P = .01 and P = .002, respectively). Graft failure was the most common cause of death, accounting for 50% of deaths after HLA-matched sibling and 43% of deaths after alternative donor transplantation. The day-28 incidence of neutrophil recovery was 66% after HLA-matched sibling and 61% after alternative donor transplantation (P = .49). The median age of surviving patients is 7 years. Of evaluable surviving patients, 70% are visually impaired; 10% have impaired hearing and gross motor delay. Nevertheless, 65% reported performance scores of 90 or 100, and in 17%, a score of 80 at last contact. Most survivors >5 years are attending mainstream or specialized schools. Rates of veno-occlusive disease and interstitial pneumonitis were high at 20%. Though allogeneic transplantation results in long-term survival with acceptable social function, strategies to lower graft failure and hepatic and pulmonary toxicity are urgently needed. PMID:26012570

  5. Accelerated Progression of Gastritis to Dysplasia in the Pyloric Antrum of TFF2−/− C57BL6 × Sv129 Helicobacter pylori-Infected Mice

    PubMed Central

    Fox, James G.; Rogers, Arlin B.; Whary, Mark T.; Ge, Zhongming; Ohtani, Masa; Jones, Evelyn Kurt; Wang, Timothy C.

    2007-01-01

    Trefoil factor family 2 (TFF2) is up-regulated in Helicobacter spp.-infected gastric tissues of both humans and mice. To ascertain the biological effects of TFF2 in vivo, TFF2−/− C57BL/6 × Sv129 and wild-type (WT) C57BL/6 × Sv129 mice were orally infected with Helicobacter pylori SS1. Mice were evaluated for gastric H. pylori colonization, pathology, and cytokine profiles at 6 and 19 months post inoculation (pi). At 6 months pi, there was a significant difference (P < 0.05) for epithelial criteria (mucosal defects, atrophy, hyperplasia, pseudopyloric metaplasia, and dysplasia) in the corpus of TFF2−/− versus WT mice. At 19 months pi, a similar statistical difference in epithelial parameters was noted in the antrum of TFF2−/− versus WT mice (P < 0.01). All of the TFF2−/− H. pylori-infected mice had high-grade antral dysplasia, including gastric intraepithelial neoplasia, which was statistically significant (P < 0.05) compared with the infected WT mice. Levels of interferon-γ were markedly elevated in the gastric mucosa of infected TFF2−/− mice at both 6 and 19 months pi. TFF2 provided a cytoprotective and/or anti-inflammatory effect against the progression of premalignant lesions of the gastric corpus at 6 months pi and in the pyloric antrum in H. pylori-infected mice at 19 months pi. These data support a protective role for TFF2 in part by modulating levels of gastric interferon-γ in the development of H. pylori-associated premalignancy of the distal stomach. PMID:17982128

  6. Contributions of different NaPi cotransporter isoforms to dietary regulation of P transport in the pyloric caeca and intestine of rainbow trout.

    PubMed

    Sugiura, Shozo H; Ferraris, Ronaldo P

    2004-05-01

    The anatomical proximity and embryological relationship of the pyloric caeca (PC) and small intestine of rainbow trout has led to the frequent assumption, on little evidence, that they have the same enzymes and transporters. In trout, the PC is an important absorptive organ for dietary nutrients, but its role in dietary P absorption has not been reported. We found that apical inorganic phosphate (Pi) transport in PC comprises carrier-mediated and diffusive components. Carrier-mediated uptake was energy- and temperature-dependent, competitively inhibited and Na(+)-independent, and greater than the Na(+)-dependent intestinal uptake. Pi uptake in PC was pH-sensitive in the presence of Na(+). Despite the active Pi transport system in PC, high postprandial luminal Pi concentrations ( approximately 20 mmol l(-1)) indicate that diffusive uptake represents approximately 92% of total Pi uptake in PC of fed fish. The nucleotide sequence of a sodium-phosphate cotransporter (NaPi-II) isoform isolated from PC was approximately 8% different from the intestinal NaPi cotransporter. PC-NaPi mRNA was abundant in PC but rare in the intestine, whereas intestinal NaPi mRNA was abundant in the intestine but scarce in PC. Dietary P restriction reduced serum and bone P concentrations, increased intestine-type, but not PC-type, NaPi mRNA in PC, and increased Pi uptake in intestine but not in PC. Intestine-type NaPi expression may be useful for predicting dietary P deficiency.

  7. [Infantile hemangioma and propranolol: a therapeutic "revolution". Literature review].

    PubMed

    Yilmaz, L; Dangoisse, C; Semaille, P

    2013-01-01

    Infantile hemangioma (IH) is the most common benign vascular tumour affecting children. Most infantile hemangiomas are self-limiting, but some require specific treatment. Propranolol has been proposed for the treatment of infantile hemangiomas. The aim of this study is to explore the mechanism of action of propranolol for the treatment of infantile hemangiomas and to demonstrate its safety and efficacy through a review of the literature. The non cardioselective bêta-blocker propranolol has been used in a pediatric setting for 40 years and, since 2008, has a new indication. A clearly significant improvement has been observed in the condition of children with complicated IH (10%) treated with propranolol. This new indication has been widely described in the international literature. Various explanations have been put forward for the mechanism of action including a vasoconstrictor, antiangiogenic and apoptotic effect of propranolol on the different cells making up an IH. Overall tolerance is good and the efficacy markedly superior to that of any other treatments used for this purpose. In conclusion, with its good tolerance profile and superior efficacy versus all the other available therapies, propranolol can be considered to be a first-line treatment for complicated IH.

  8. Possible association of Kingella kingae with infantile spondylodiscitis.

    PubMed

    Ceroni, Dimitri; Belaieff, Wilson; Kanavaki, Akatarina; Della Llana, Rebecca Anderson; Lascombes, Pierre; Dubois-Ferriere, Victor; Dayer, Romain

    2013-11-01

    The course of the spondylodiscitis' infantile form is characterized by a mild-to-moderate clinical and biologic inflammatory response. Unfortunately, blood and disk/vertebral aspiration cultures show a high percentage of negative results. However, detecting Kingella kingae DNA in the oropharynx provided reasonable suspicion, to our opinion, that this microorganism is responsible for the spondylodiscitis.

  9. Infantile Spasms and Cytomegalovirus Infection: Antiviral and Antiepileptic Treatment

    ERIC Educational Resources Information Center

    Dunin-Wasowicz, Dorota; Kasprzyk-Obara, Jolanta; Jurkiewicz, Elzbieta; Kapusta, Monika; Milewska-Bobula, Bogumila

    2007-01-01

    From 1 January 1995 to 31 December 2004, 22 patients (13 males, nine females; age range 2-12mo) with infantile spasms and cytomegalovirus (CMV) infection were treated with intravenous ganciclovir (GCV) and antiepileptic drugs. GCV was given for 3 to 12 weeks with a 1-month interval (one, two, or three courses). Epileptic spasms occurred before…

  10. Infantile colic: maternal smoking as potential risk factor

    PubMed Central

    Reijneveld, S.; Brugman, E.; Hirasing, R.

    2000-01-01

    The association of maternal smoking and type of feeding with colic was assessed in 3345 children aged 1-6 months (96% response). The prevalence of colic was twofold higher among infants of smoking mothers, but less among breastfed infants. Maternal smoking as a potential risk factor for infantile crying needs further study.

 PMID:10999861

  11. Infantile tibia vara: correction of recurrent varus deformity following epiphyseolysis.

    PubMed

    Gary, Joshua; Richards, B Stephens

    2008-05-01

    Infantile tibia vara (infantile Blount's disease) is a condition in which progressive varus of the knee develops due to diminished physeal growth of the medial aspect of the proximal tibia. A 6-year-old boy with severe bilateral infantile tibia vara (Langenskiold stage V) underwent operative correction of his deformities. Surgery consisted of epiphyseolyses of the medial proximal tibiae and valgus-producing corrective tibial osteotomies. Nearly 5 years after symmetric growth, he again developed progressive varus involving his left knee. Usually, a repeat proximal tibial osteotomy is required along with consideration for completion of epiphyseodesis. In this case report, a simpler approach using staples was taken to successfully regain correction in a patient with recurrent deformity who was treated previously by a combination of epiphyseolysis and proximal tibial osteotomy. Stapling of the lateral aspect of the physis allowed the limited remaining growth potential within the abnormal medial physeal region to correct the angular deformity. A small overcorrection into valgus corrected after subsequent removal of the staple. At 14 years, with clinical and radiologic alignment normal, bilateral proximal tibial epiphysiodeses were performed. The patient returned to playing football at a high school level and had no functional limitations. To our knowledge, this is the first report of growth modulation (physeal stapling) resulting in successful correction of recurring genu varum in a knee that had previously undergone epiphyseolysis of the medial proximal tibial physis in advanced infantile tibia vara.

  12. Infantile Autism and the Temporal Lobe of the Brain.

    ERIC Educational Resources Information Center

    Hetzler, Bruce E.; Griffin, Judith L.

    1981-01-01

    Studies are reviewed that support the hypothesis that infantile autism results from a neuropathology of the temporal lobes of the brain. It is concluded that the main autistic symptoms are most consistent with a neurological model involving bilateral dysfunction of the temporal lobes. (Author)

  13. Part One: Infantile Spasms--The New Consensus

    ERIC Educational Resources Information Center

    Pellock, John

    2011-01-01

    Infantile spasms (IS, West syndrome) represent a difficult to treat and sometimes not immediately recognized form of epilepsy which is relatively rare. West Syndrome or IS is one of the most recognized types of epileptic encephalopathy, a form of epilepsy usually associated with developmental regression and delay, frequently difficult to treat and…

  14. Genetics Home Reference: X-linked infantile spasm syndrome

    MedlinePlus

    ... A new paradigm for West syndrome based on molecular and cell biology. Epilepsy Res. 2006 Aug;70 Suppl 1:S87-95. Epub 2006 Jun 23. Review. Citation on PubMed Kossoff ... JL. Interneuron, interrupted: molecular pathogenesis of ARX mutations and X-linked infantile ...

  15. Infantile amnesia reflects a developmental critical period for hippocampal learning

    PubMed Central

    Travaglia, Alessio; Bisaz, Reto; Sweet, Eric S.; Blitzer, Robert D.; Alberini, Cristina M.

    2016-01-01

    Episodic memories formed during the first postnatal period are rapidly forgotten, a phenomenon known as infantile amnesia. In spite of this memory loss, early experiences influence adult behavior, raising the question of which mechanisms underlie infantile memories and amnesia. Here we show that in rats an experience learned during the infantile amnesia period is stored as a latent memory trace for a long time; indeed, a later reminder reinstates a robust, context-specific and long-lasting memory. The formation and storage of this latent memory requires the hippocampus, follows a sharp temporal boundary, and occurs through mechanisms typical of developmental critical periods, including brain-derived-neurotrophic-factor (BDNF)- and metabotropic-glutamate-receptor-5 (mGluR5)-dependent expression switch of the N-methyl-D-aspartate receptor subunits 2B-2A. BDNF or mGlur5 activation after training rescues the infantile amnesia. Thus, early episodic memories are not lost, but remain stored long-term. These data suggest that the hippocampus undergoes a developmental critical period to become functionally competent. PMID:27428652

  16. Microvascular permeability changes might explain cardiac tamponade after alcohol septal ablation for hypertrophic cardiomyopathy.

    PubMed

    Hsu, Jen-Te; Hsiao, Ju-Feng; Chang, Jung-Jung; Chung, Chang-Min; Chang, Shih-Tai; Pan, Kuo-Li

    2014-04-01

    Various sequelae of alcohol septal ablation for hypertrophic obstructive cardiomyopathy have been reported. Of note, some cases of cardiac tamponade after alcohol septal ablation cannot be well explained. We describe the case of a 78-year-old woman with hypertrophic obstructive cardiomyopathy in whom cardiac tamponade developed one hour after alcohol septal ablation, probably unrelated to mechanical trauma. At that time, we noted a substantial difference in the red blood cell-to-white blood cell ratio between the pericardial effusion (1,957.4) and the peripheral blood (728.3). In addition to presenting the patient's case, we speculate that a possible mechanism for acute tamponade--alcohol-induced changes in microvascular permeability--is a reasonable explanation for cases of alcohol septal ablation that are complicated by otherwise-unexplainable massive pericardial effusions.

  17. Left Atrial trajectory impairment in Hypertrophic Cardiomyopathy disclosed by Geometric Morphometrics and Parallel Transport

    NASA Astrophysics Data System (ADS)

    Piras, Paolo; Torromeo, Concetta; Re, Federica; Evangelista, Antonietta; Gabriele, Stefano; Esposito, Giuseppe; Nardinocchi, Paola; Teresi, Luciano; Madeo, Andrea; Chialastri, Claudia; Schiariti, Michele; Varano, Valerio; Uguccioni, Massimo; Puddu, Paolo E.

    2016-10-01

    The analysis of full Left Atrium (LA) deformation and whole LA deformational trajectory in time has been poorly investigated and, to the best of our knowledge, seldom discussed in patients with Hypertrophic Cardiomyopathy. Therefore, we considered 22 patients with Hypertrophic Cardiomyopathy (HCM) and 46 healthy subjects, investigated them by three–dimensional Speckle Tracking Echocardiography, and studied the derived landmark clouds via Geometric Morphometrics with Parallel Transport. Trajectory shape and trajectory size were different in Controls versus HCM and their classification powers had high AUC (Area Under the Receiving Operator Characteristic Curve) and accuracy. The two trajectories were much different at the transition between LA conduit and booster pump functions. Full shape and deformation analyses with trajectory analysis enabled a straightforward perception of pathophysiological consequences of HCM condition on LA functioning. It might be worthwhile to apply these techniques to look for novel pathophysiological approaches that may better define atrio–ventricular interaction.

  18. A case of synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome presenting with hypertrophic pachymeningitis.

    PubMed

    Shiraishi, Wataru; Hayashi, Shintaro; Iwanaga, Yasutaka; Murai, Hiroyuki; Yamamoto, Akifumi; Kira, Jun-ichi

    2015-02-15

    A 43-year-old woman with a 3-year history of headache, fever, and swelling of the forehead, presented to our hospital. A general examination revealed palmar and plantar pustules. Blood analyses showed an elevated white blood cell count, C-reactive protein level, and erythrocyte sedimentation rate. Brain MRI revealed a partially thickened cranial bone with gadolinium enhancement, and also abnormally enhanced dura mater. Bone scintigraphy showed involvement of the cranial bone and bilateral sternoclavicular joints. Palmar skin biopsy indicated palmoplantar pustulosis. From these results, SAPHO (synovitis, acne, pustulosis, hyperostosis and osteitis) syndrome with associated hypertrophic pachymeningitis was diagnosed. After corticosteroid therapy and tonsillectomy, the clinical symptoms and radiological abnormalities were improved. Clinicians should be aware of SAPHO as a potential unusual cause of hypertrophic pachymeningitis.

  19. The diagnosis of left ventricular outflow tract obstruction in hypertrophic cardiomyopathy.

    PubMed

    Piva e Mattos, Beatriz; Torres, Marco Antonio Rodrigues; Rebelatto, Taiane Francieli; Loreto, Melina Silva de; Scolari, Fernando Luís

    2012-07-01

    Hypertrophic cardiomyopathy is a prevalent genetic disease characterized by left ventricular hypertrophy, presenting dynamic obstruction of outflow tract with subaortic gradient happening at rest in 30% of the cases. It is attributed to the intricate interaction between the anterior mitral leaflet, the interventricular septum and altered flow vectors generated in left ventricle along with changes in outflow tract geometry. Mitral regurgitation in varying degrees is found with or without association with structural deformities of the valve apparatus. The exercise echocardiogram evidences latent obstruction easily induced by exercise in 60 to 75% of non-obstructive forms. The determination of the gradient under this condition must be considered in routine investigation of patients with mild or no obstruction at rest. The evaluation of hypertrophic cardiomyopathy incorporates methods based on the ultrasound image, which, along with MRI, allow recognizing ventricular obstruction generating mechanisms, thus facilitating the diagnosis and management of obstructive and latent obstructive forms.

  20. All That Glitters is not Gold: Apical Hypertrophic Cardiomyopathy Mimicking Acute Coronary Syndrome

    PubMed Central

    Lakshmanadoss, Umashankar; Kulkarni, Abhishek; Balakrishnan, Shobana; Shree, Nidhi; Harjai, Kishore; Jagasia, Dinesh

    2012-01-01

    Hypertrophic cardiomyopathy is characterized by the idiopathic hypertrophy of the left ventricle (and occasionally right ventricle). HCM is an autosomal dominant disease, with variable penetration. In Asian population, apical hypertrophic cardiomyopathy is relatively common (25%). However, this is relatively rare in Caucasian population (0.2%). Patients with HCM, often presents with typical exertional chest pain and shortness of breath. Apical HCM patients tend to have milder symptoms. However, the clinical presentation and electrocardiographic features of Apical HCM often mimic acute coronary syndrome and high index of suspicion is warranted in differentiating this condition. Patients with apical HCM have relatively better prognosis when compare to the other varieties. Here, we are presenting a patient who presented with typical exertional chest pain whose electrocardiographic changes are concerning for acute ischemic changes.

  1. Effects of prolonged hypertrophic resistance training on acute endocrine responses in young and older men.

    PubMed

    Walker, Simon; Santolamazza, Fabrizio; Kraemer, William; Häkkinen, Keijo

    2015-04-01

    The present study investigated changes in acute serum hormone responses to a resistance exercise bout following a prolonged period of hypertrophic resistance training in young (YM) and older men (OM). Subjects performed a 5 × 10RM leg press exercise protocol before and after 20 weeks of hypertrophic resistance training. In YM, the acute responses in growth hormone were greater compared with before training (p < .05), and cortisol concentration did not increase after training. Endocrine responses in OM were similar before and after training. Greater acute growth hormone responses after training were associated with larger gains in lean mass in the entire subject group (r = .596, p = .019). These findings suggest that, in general, YM demonstrate greater adaptability within the endocrine system compared with OM. However, adaptability in growth hormone response was associated with larger training-induced gains independent of age.

  2. Effects of Prolonged Hypertrophic Resistance Training on Acute Endocrine Responses in Young and Older Men.

    PubMed

    Walker, Simon; Santolamazza, Fabrizio; Kraemer, William; Häkkinen, Keijo

    2014-05-02

    The present study investigated changes in acute serum hormone responses to a resistance exercise bout following a prolonged period of hypertrophic resistance training in young (YM) and older men (OM). Subjects performed a 5 × 10RM leg press exercise protocol before and after 20 weeks of hypertrophic resistance training. In YM, the acute responses in growth hormone were greater compared to before training (P < 0.05), and cortisol concentration did not increase after training. Endocrine responses in OM were similar before and after training. Greater acute growth hormone responses after training were associated with larger gains in lean mass in the entire subject group (r = 0.596, P = 0.019). These findings suggest that, in general, YM demonstrate greater adaptability within the endocrine system compared to OM. However, adaptability in growth hormone response was associated with larger training-induced gains independent of age.

  3. Pachydermoperiostosis (primary hypertrophic osteoarthropathy): report of a case with evidence of endothelial and connective tissue involvement.

    PubMed Central

    Matucci-Cerinic, M; Cinti, S; Morroni, M; Lotti, T; Nuzzaci, G; Lucente, E; di Lollo, S; Ceruso, M; Cagnoni, M

    1989-01-01

    A case of pachydermoperiostosis characterised by the presence of finger clubbing, periostosis, sweating of hands and feet is described. Modifications of capillaroscopic pattern and of arteriovenous anastomoses are reported. The periungual border and finger tip tissue showed diffuse endothelial hyperplasia, hyalinosis, and sclerosis with packing of collagen fibres. Electron microscopy showed hypertrophic and activated endothelia (numerous and hypertrophic Golgi complexes, several Weibel-Palade bodies, vesicles of micropinocytosis, and glycogen particles), the basal membrane thickened and reduplicated, perivasal infiltrate in superficial derma, reticulation and segmentary reduplication of basal membrane in arteriovenous shunt. In the perineural connective tissue numerous Luse bodies (long spacing collagen) were evident. The data indicate that in the early phase of pachydermoperiostosis morphological endothelial and collagen fibre abnormalities are present, though there is a normal peripheral blood flow. Images PMID:2930280

  4. [Functional regulation of genome with peptide bioregulators by hypertrophic cardiomyopathy (by patients and relatives)].

    PubMed

    Dzhokhadze, T A; Buadze, T Zh; Gaĭozishvili, M N; Rogava, M A; Lazhava, T A

    2013-12-01

    In this paper, a comparative study of the functional genome indicators using lymphocyte cultures of patients with hypertrophic cardiomyopathy (HCM) and their first relatives. Studies conducted both in intact cultures and cultures exposed to the influence of peptide - bioregulators Epithalon, Vilon and Livagen. Last (Livagen) tested at separate and joint application with cobalt chloride salt. As indicated according to the results of the analysis, the cells of the individuals with HCM and their first relatives were characterized by higher frequency of spontaneous quantitative - structural disorders in comparison with the cells of healthy individuals. The findings suggest a different effect of bioregulators. The most effective protective action in relation normalization of functional parameters of the genome shows Epithalon for lowering the level of chromosomal instability in patients with hypertrophic cardiomyopathy and relatives of patients with HCM. On the basis of identified protective action Epithalon concludes prospects of its application in the development of preventive measures for individuals at increased risk of morbidity HCM.

  5. An autopsy report of acute myocardial infarction with hypertrophic obstructive cardiomyopathy-like heart.

    PubMed

    Ushikoshi, Hiroaki; Okada, Hideshi; Morishita, Kentaro; Imai, Hajime; Tomita, Hiroyuki; Nawa, Takahide; Suzuki, Kodai; Ikeshoji, Haruka; Kato, Hisaaki; Yoshida, Takahiro; Yoshida, Shozo; Shirai, Kunihiro; Toyoda, Izumi; Hara, Akira; Ogura, Shinji

    2015-01-01

    An 84-year-old woman, who was followed up as hypertrophic obstructive cardiomyopathy (HOCM) in a local hospital, was transferred to our center because of anterior chest pain and diagnosed with acute myocardial infarction (MI). Coronary angiography showed total occlusion of the mid-left anterior descending, and flow was restored after endovascular thrombectomy. An autopsy was performed after she died on hospital day 6. At autopsy, there was no significant stenosis in this vessel and the absence of plaque rupture was confirmed. Likewise, it was unclear asymmetric hypertrophy at autopsy, it could not deny that a sigmoid deformity of the basal septum occurs in elderly patients and can mimic the asymmetric septal hypertrophy of hypertrophic cardiomyopathy. MI was thought to be caused by coronary spasm or squeezing in HOCM-like heart. Therefore, it may be necessary antithrombosis therapy in HOCM-like patients with no history of paroxysmal atrial fibrillation.

  6. A small-molecule inhibitor of sarcomere contractility suppresses hypertrophic cardiomyopathy in mice.

    PubMed

    Green, Eric M; Wakimoto, Hiroko; Anderson, Robert L; Evanchik, Marc J; Gorham, Joshua M; Harrison, Brooke C; Henze, Marcus; Kawas, Raja; Oslob, Johan D; Rodriguez, Hector M; Song, Yonghong; Wan, William; Leinwand, Leslie A; Spudich, James A; McDowell, Robert S; Seidman, J G; Seidman, Christine E

    2016-02-05

    Hypertrophic cardiomyopathy (HCM) is an inherited disease of heart muscle that can be caused by mutations in sarcomere proteins. Clinical diagnosis depends on an abnormal thickening of the heart, but the earliest signs of disease are hyperdynamic contraction and impaired relaxation. Whereas some in vitro studies of power generation by mutant and wild-type sarcomere proteins are consistent with mutant sarcomeres exhibiting enhanced contractile power, others are not. We identified a small molecule, MYK-461, that reduces contractility by decreasing the adenosine triphosphatase activity of the cardiac myosin heavy chain. Here we demonstrate that early, chronic administration of MYK-461 suppresses the development of ventricular hypertrophy, cardiomyocyte disarray, and myocardial fibrosis and attenuates hypertrophic and profibrotic gene expression in mice harboring heterozygous human mutations in the myosin heavy chain. These data indicate that hyperdynamic contraction is essential for HCM pathobiology and that inhibitors of sarcomere contraction may be a valuable therapeutic approach for HCM.

  7. Up-to-date approach to manage keloids and hypertrophic scars: A useful guide

    PubMed Central

    Arno, Anna I.; Gauglitz, Gerd G.; Barret, Juan P.; Jeschke, Marc G.

    2014-01-01

    Keloids and hypertrophic scars occur anywhere from 30 to 90% of patients, and are characterized by pathologically excessive dermal fibrosis and aberrant wound healing. Both entities have different clinical and histochemical characteristics, and unfortunately still represent a great challenge for clinicians due to lack of efficacious treatments. Current advances in molecular biology and genetics reveal new preventive and therapeutical options which represent a hope to manage this highly prevalent, chronic and disabling problem, with long-term beneficial outcomes and improvement of quality of life. While we wait for these translational clinical products to be marketed, however, it is imperative to know the basics of the currently existing wide array of strategies to deal with excessive scars: from the classical corticotherapy, to the most recent botulinum toxin and lasers. The main aim of this review paper is to offer a useful up-to-date guideline to prevent and treat keloids and hypertrophic scars. PMID:24767715

  8. Myocardial stunning in hypertrophic cardiomyopathy: recovery predicted by single photon emission computed tomographic thallium-201 scintigraphy

    SciTech Connect

    Fine, D.G.; Clements, I.P.; Callahan, M.J.

    1989-05-01

    A young woman with hypertrophic cardiomyopathy confirmed by echocardiography and cardiac catheterization presented with chest pain and features of a large left ventricular aneurysm. The initial diagnosis was myocardial ischemia with either an evolving or an ancient myocardial infarction. Subsequently, verapamil therapy was associated with complete resolution of the extensive left ventricular wall motion abnormalities, normalization of left ventricular ejection fraction and a minimal myocardial infarction. Normal thallium uptake on single photon emission computed tomographic scintigraphy early in the hospital course predicted myocardial viability in the region of the aneurysm. Thus, orally administered verapamil may reverse spontaneous extensive myocardial ischemia in hypertrophic cardiomyopathy and possibly limit the extent of myocardial infarction in such circumstances.

  9. [Chronic subdural hematoma with a markedly fibrous hypertrophic membrane. Case report].

    PubMed

    Sato, M; Kuwana, N; Kojima, Y; Tanaka, N; Kitamura, H

    1990-01-01

    A 40-year-old female, who had taken low-dose oral contraceptives for 2 months before onset, developed transient dysarthria, left hemiparesis, and left hemihypesthesia. One month later, a computed tomography (CT) scan revealed a uniformly enhanced, convex-shaped, hypertrophic membrane with a lobulated lumen in the subdural space of the right parietal region. A right parietal craniotomy was performed. The membrane, consisting of elastic-hard, hypertrophic granulation tissue and yellowish, sticky fluid in the lumen, was readily freed and totally extirpated. Subsequently, the patient recovered without persistent symptoms. Light microscopic examination detected the sinusoidal channel layer and the fibrous layer in an alternating configuration, along with intramembranous hemorrhagic foci. Such hypertrophy must have been caused by repeated intramembranous hemorrhages and reactive granulation. Such findings of hematoma membrane have never previously been reported. Thus, this is an interesting case, clearly distinguished from typical chronic subdural hematoma.

  10. Hypertrophic Scarring and Keloids: Pathomechanisms and Current and Emerging Treatment Strategies

    PubMed Central

    Gauglitz, Gerd G; Korting, Hans C; Pavicic, Tatiana; Ruzicka, Thomas; Jeschke, Marc G

    2011-01-01

    Excessive scars form as a result of aberrations of physiologic wound healing and may arise following any insult to the deep dermis. By causing pain, pruritus and contractures, excessive scarring significantly affects the patient’s quality of life, both physically and psychologically. Multiple studies on hypertrophic scar and keloid formation have been conducted for decades and have led to a plethora of therapeutic strategies to prevent or attenuate excessive scar formation. However, most therapeutic approaches remain clinically unsatisfactory, most likely owing to poor understanding of the complex mechanisms underlying the processes of scarring and wound contraction. In this review we summarize the current understanding of the pathophysiology underlying keloid and hypertrophic scar formation and discuss established treatments and novel therapeutic strategies. PMID:20927486

  11. Up-to-date approach to manage keloids and hypertrophic scars: a useful guide.

    PubMed

    Arno, Anna I; Gauglitz, Gerd G; Barret, Juan P; Jeschke, Marc G

    2014-11-01

    Keloids and hypertrophic scars occur anywhere from 30 to 90% of patients, and are characterized by pathologically excessive dermal fibrosis and aberrant wound healing. Both entities have different clinical and histochemical characteristics, and unfortunately still represent a great challenge for clinicians due to lack of efficacious treatments. Current advances in molecular biology and genetics reveal new preventive and therapeutical options which represent a hope to manage this highly prevalent, chronic and disabling problem, with long-term beneficial outcomes and improvement of quality of life. While we wait for these translational clinical products to be marketed, however, it is imperative to know the basics of the currently existing wide array of strategies to deal with excessive scars: from the classical corticotherapy, to the most recent botulinum toxin and lasers. The main aim of this review paper is to offer a useful up-to-date guideline to prevent and treat keloids and hypertrophic scars.

  12. The myosin mesa and a possible unifying hypothesis for the molecular basis of human hypertrophic cardiomyopathy

    PubMed Central

    Spudich, James A.

    2015-01-01

    No matter how many times one explores the structure of the myosin molecule, there is always something new to discover. Here, I describe the myosin mesa, a structural feature of the motor domain that has the characteristics of a binding domain for another protein, possibly myosin-binding protein C (MyBP-C). Interestingly, many well-known hypertrophic cardiomyopathy (HCM) mutations lie along this surface and may affect the putative interactions proposed here. A potential unifying hypothesis for the molecular basis of human hypertrophic cardiomyopathy is discussed here. It involves increased power output of the cardiac muscle as a result of HCM mutations causing the release of inhibition by myosin binding protein C. PMID:25619247

  13. A small-molecule inhibitor of sarcomere contractility suppresses hypertrophic cardiomyopathy in mice

    PubMed Central

    Green, Eric M.; Wakimoto, Hiroko; Anderson, Robert L.; Evanchik, Marc J.; Gorham, Joshua M.; Harrison, Brooke C.; Henze, Marcus; Kawas, Raja; Oslob, Johan D.; Rodriguez, Hector M.; Song, Yonghong; Wan, William; Leinwand, Leslie A.; Spudich, James A.; McDowell, Robert S.; Seidman, J. G.; Seidman, Christine E.

    2016-01-01

    Hypertrophic cardiomyopathy (HCM) is an inherited disease of heart muscle that can be caused by mutations in sarcomere proteins. Clinical diagnosis depends on an abnormal thickening of the heart, but the earliest signs of disease are hyperdynamic contraction and impaired relaxation. Whereas some in vitro studies of power generation by mutant and wild-type sarcomere proteins are consistent with mutant sarcomeres exhibiting enhanced contractile power, others are not. We identified a small molecule, MYK-461, that reduces contractility by decreasing the adenosine triphosphatase activity of the cardiac myosin heavy chain. Here we demonstrate that early, chronic administration of MYK-461 suppresses the development of ventricular hypertrophy, cardiomyocyte disarray, and myocardial fibrosis and attenuates hypertrophic and profibrotic gene expression in mice harboring heterozygous human mutations in the myosin heavy chain. These data indicate that hyperdynamic contraction is essential for HCM pathobiology and that inhibitors of sarcomere contraction may be a valuable therapeutic approach for HCM. PMID:26912705

  14. Left Atrial trajectory impairment in Hypertrophic Cardiomyopathy disclosed by Geometric Morphometrics and Parallel Transport.

    PubMed

    Piras, Paolo; Torromeo, Concetta; Re, Federica; Evangelista, Antonietta; Gabriele, Stefano; Esposito, Giuseppe; Nardinocchi, Paola; Teresi, Luciano; Madeo, Andrea; Chialastri, Claudia; Schiariti, Michele; Varano, Valerio; Uguccioni, Massimo; Puddu, Paolo E

    2016-10-07

    The analysis of full Left Atrium (LA) deformation and whole LA deformational trajectory in time has been poorly investigated and, to the best of our knowledge, seldom discussed in patients with Hypertrophic Cardiomyopathy. Therefore, we considered 22 patients with Hypertrophic Cardiomyopathy (HCM) and 46 healthy subjects, investigated them by three-dimensional Speckle Tracking Echocardiography, and studied the derived landmark clouds via Geometric Morphometrics with Parallel Transport. Trajectory shape and trajectory size were different in Controls versus HCM and their classification powers had high AUC (Area Under the Receiving Operator Characteristic Curve) and accuracy. The two trajectories were much different at the transition between LA conduit and booster pump functions. Full shape and deformation analyses with trajectory analysis enabled a straightforward perception of pathophysiological consequences of HCM condition on LA functioning. It might be worthwhile to apply these techniques to look for novel pathophysiological approaches that may better define atrio-ventricular interaction.

  15. Left Atrial trajectory impairment in Hypertrophic Cardiomyopathy disclosed by Geometric Morphometrics and Parallel Transport

    PubMed Central

    Piras, Paolo; Torromeo, Concetta; Re, Federica; Evangelista, Antonietta; Gabriele, Stefano; Esposito, Giuseppe; Nardinocchi, Paola; Teresi, Luciano; Madeo, Andrea; Chialastri, Claudia; Schiariti, Michele; Varano, Valerio; Uguccioni, Massimo; Puddu, Paolo E.

    2016-01-01

    The analysis of full Left Atrium (LA) deformation and whole LA deformational trajectory in time has been poorly investigated and, to the best of our knowledge, seldom discussed in patients with Hypertrophic Cardiomyopathy. Therefore, we considered 22 patients with Hypertrophic Cardiomyopathy (HCM) and 46 healthy subjects, investigated them by three–dimensional Speckle Tracking Echocardiography, and studied the derived landmark clouds via Geometric Morphometrics with Parallel Transport. Trajectory shape and trajectory size were different in Controls versus HCM and their classification powers had high AUC (Area Under the Receiving Operator Characteristic Curve) and accuracy. The two trajectories were much different at the transition between LA conduit and booster pump functions. Full shape and deformation analyses with trajectory analysis enabled a straightforward perception of pathophysiological consequences of HCM condition on LA functioning. It might be worthwhile to apply these techniques to look for novel pathophysiological approaches that may better define atrio–ventricular interaction. PMID:27713503

  16. The Mitral Valve in Obstructive Hypertrophic Cardiomyopathy: A Test in Context.

    PubMed

    Sherrid, Mark V; Balaram, Sandhya; Kim, Bette; Axel, Leon; Swistel, Daniel G

    2016-04-19

    Mitral valve abnormalities were not part of modern pathological and clinical descriptions of hypertrophic cardiomyopathy in the 1950s, which focused on left ventricular (LV) hypertrophy and myocyte fiber disarray. Although systolic anterior motion (SAM) of the mitral valve was discovered as the cause of LV outflow tract obstruction in the M-mode echocardiography era, in the 1990s structural abnormalities of the mitral valve became appreciated as contributing to SAM pathophysiology. Hypertrophic cardiomyopathy mitral malformations have been identified at all levels. They occur in the leaflets, usually elongating them, and also in the submitral apparatus, with a wide array of malformations of the papillary muscles and chordae, that can be detected by transthoracic and transesophageal echocardiography and by cardiac magnetic resonance. Because they participate fundamentally in the predisposition to SAM, they have increasingly been repaired surgically. This review critically assesses imaging and measurement of mitral abnormalities and discusses their surgical relief.

  17. Hypertrophic Cardiomyopathy (HCM): How Flow Analysis May Drive Medical Management and Surgical Approach

    NASA Astrophysics Data System (ADS)

    Abraham, Theodore P.

    2011-11-01

    Hypertrophic Cardiomyopathy (HCM) is the most common inherited heart disease and occurs in 1 in 500 persons worldwide regardless of race, age and gender. It is the most common cause of sudden death in the young and also causes heart failure and cardiac arrhythmias. The primary anatomic abnormality is thickening of certain walls, or sometimes global thickening of the left or right ventricle. The patterns of thickening along with increased ventricular stiffness lead to suboptimal ventricular filling and inefficient ejection of blood from the ventricle. Treatment for HCM can be medical or surgical. The choice of therapy is driven by the presence and severity of outflow obstruction. Flow analysis could provide sophisticated information about outflow and inflow ventricular dynamics. These flow dynamics features may enable better medical choices and provide information that would allow superior surgical planning. Associate Professor of Medicine & Director, Hypertrophic Cardiomyopathy Clinic

  18. Stress cardiomyopathy in a patient with hypertrophic cardiomyopathy and myocardial bridging

    PubMed Central

    Benavides, Miguel; Vinardell, Juan M; Arenas, Ivan; Santana, Orlando

    2017-01-01

    Stress cardiomyopathy is an acquired cardiomyopathy of unknown aetiology. It usually occurs in women over the age of 70 who have experienced physical or emotional stress. It is most commonly characterised by a transient, left ventricular systolic dysfunction in the apical portion and hyperkinesia in the basal segments, without obstructive coronary artery disease. Its association with obstructive hypertrophic cardiomyopathy and myocardial bridging is rare. Herein, we present such a case. PMID:28228389

  19. Exposure to Varying Strain Magnitudes Influences the Conversion of Normal Skin Fibroblasts Into Hypertrophic Scar Cells.

    PubMed

    Kuang, Ruixia; Wang, Zhiguo; Xu, Quanchen; Cai, Xia; Liu, Tao

    2016-04-01

    Mechanical strain is a key contributor in the pathogenesis of hypertrophic scarring, whose optimal stretch magnitudes to initiate the differentiation of normal skin fibroblasts into aberrant fibroblasts phenotype remains largely unresolved. Influence of varying cyclic strain magnitudes on cultured human normal skin fibroblasts and its transformation into hypertrophic scar fibroblast-like phenotype is investigated in this study. Cultured fibroblasts isolated from hypertrophic scar and normal skin tissue were subjected to cyclic mechanical stretching under individual 10%, 15%, and 20% strain magnitudes at a frequency of 0.1 Hz for 24 hours. Stretched normal skin fibroblasts demonstrated significantly increased rates of cell proliferation, and also apparently oriented away nearly perpendicular to the applied stretching direction. Interestingly, the applied 10% strains magnitude resulted in a markedly enhanced cell proliferative ability compared with that of 20% strain magnitude. Parameters involving the mechanotransduction signaling, such as integrin β1 and P130Cas, were significantly improved at both mRNA and protein levels in the stretched normal skin fibroblasts, which was demonstrated in a negative magnitude-dependent manner. In addition, 10% strains magnitude triggered the highest expression levels of growth factor TGF-β1 and collagen matrix in stretched normal skin fibroblasts. Collectively, these results indicate that the 10% stretching magnitude, of the 3 strain magnitudes studied, is most effective for triggering the optimal mechanotransduction effects and biological responses inside cultured skin fibroblasts. The demonstrable conversion of normal skin fibroblasts into hypertrophic scar fibroblasts was also observed when 10% stretching magnitude was applied to cultured fibroblasts in vitro.

  20. Papillary Thyroid Carcinoma Treated with Radiofrequency Ablation in a Patient with Hypertrophic Cardiomyopathy: A Case Report

    PubMed Central

    Sun, Jianyi; Liu, Xiaosun; Zhang, Qing; Hong, Yanyun; Song, Bin; Teng, Xiaodong

    2016-01-01

    Standard therapy has not been established for thyroid cancer when a thyroidectomy is contraindicated due to systemic disease. Herein, we reported a patient who had hypertrophic cardiomyopathy and papillary thyroid carcinoma treated by radiofrequency ablation because of inability to tolerate a thyroidectomy. Radiofrequency ablation can be used to treat thyroid cancer when surgery is not feasible, although the long-term outcome needs further observation. PMID:27390548

  1. Treatment of hypertrophic scars using a long-pulsed dye laser with cryogen-spray cooling.

    PubMed

    Kono, Taro; Erçöçen, Ali Rza; Nakazawa, Hiroaki; Nozaki, Motohiro

    2005-05-01

    Hypertrophic scars are common and cause functional and psychologic morbidity. The conventional pulsed dye laser (585 nm) has been shown previously to be effective in the treatment of a variety of traumatic and surgical scars, with improvement in scar texture, color, and pliability, with minimal side effects. This prospective study was performed to determine the effectiveness of the long-pulsed dye laser (595 nm) with cryogen-spray cooling device in the treatment of hypertrophic scars. Fifteen Asian patients with 22 hypertrophic scars were treated by the long-pulsed dye laser (595 nm) with cryogen-spray cooling device. In 5 patients, the scar area was divided into halves, one half of which was treated with the laser, whereas the other half was not treated and was used as a negative control. All patients received 2 treatments at 4-week intervals, and evaluations were done by photographic and clinical assessment and histologic evaluation before the treatment and 1 month after the last laser treatment. Treatment outcome was graded by a blind observer using the Vancouver General Hospital (VGH) Burn Scar Assessment Scale. Symptoms such as pain, pruritus, and burning of the scar improved significantly. VGH scores improved in all treated sites, and there was a significant difference between the baseline and posttreatment scores, corresponding to an improvement of 51.4 +/- 14.7% (P < 0.01). Compared with the baseline, the mean percentage of scar flattening and erythema elimination was 40.7 +/- 20.7 and 65.3 +/- 25.5%, respectively (P < 0.01). The long-pulsed dye laser (595-nm) equipped with cryogen spray cooling device is an effective treatment of hypertrophic scars and can improve scar pliability and texture and decrease scar erythema and associated symptoms.

  2. Hypertrophic osteodystrophy preceding canine juvenile cellulitis in an Australian shepherd puppy

    PubMed Central

    Wentzell, Meaghan L.

    2011-01-01

    A 10-week-old intact female Australian shepherd dog was presented sternally recumbent, mildly pyrexic, and painful on long bone palpation of both forelimbs. Based on radiographs she was diagnosed with hypertrophic osteodystrophy. Analgesia was provided with intravenous, oral, and topical medications. Approximately 2 wk later she was presented for facial swelling, regional dermatitis, and lymphadenopathy. Canine juvenile cellulitis was diagnosed and successfully treated. PMID:21731101

  3. Evidence of invasive and noninvasive treatment modalities for hypertrophic scars: A systematic review.

    PubMed

    Kafka, Mona; Collins, Vanessa; Kamolz, Lars-Peter; Rappl, Thomas; Branski, Ludwik K; Wurzer, Paul

    2017-01-01

    Currently, there are various therapeutic approaches to reduce hypertrophic scarring; however, there is no standard evidence-based treatment protocol. Hence, a systematic review was performed to obtain a summary of the latest clinical trials to evaluate evidence for the treatment of hypertrophic scars. The review protocol was registered and approved by PROSPERO (CRD42015027040). PubMed and Web of Science were searched using predefined MeSH-Terms to identify studies published within the last 10 years regarding treatment for hypertrophic scars. Exclusion criteria included a level of evidence (LoE) lower than I, nonhuman in vivo studies, in vitro studies, studies on keloids, literature reviews, and non-English articles. The literature search identified 1,029 unique articles, whereas 6 articles were prospective, randomized, blinded, controlled clinical trials with a LoE I, and were thus included in the systematic analysis. Three clinical trials evaluated silicone products and pressure garments, and the other three studies investigated the efficacy of intralesional injections of triamcinolone (TAC), 5-Fluorouracil (5-FU) combined with TAC as well as the additional irradiation with a 585 nm pulsed-dye laser (PDL). Intralesional injections revealed significant improvements of the scar quality in terms of height, thickness, erythema, and pigmentation. Pressure garments showed favorable results but there was no evidence that silicone products were able to improve the scar quality. The systematic review demonstrated that there are just a few clinical trials with a LoE of I. Consequently, evidence is still lacking especially for noninvasive treatment regimens for hypertrophic scars. Intralesional injections of 5-FU mixed with a low dose of TAC can be seen as most appropriate treatment modality. Prospective clinical trials to determine the efficiency of silicone products are warranted.

  4. Vagal enhancement linking abnormal blood pressure response and subendocardial ischemia in hypertrophic cardiomyopathy.

    PubMed

    Kawasaki, Tatsuya; Sugihara, Hiroki

    2014-01-01

    An abnormal blood pressure response to exercise has been reported to be associated with left ventricular subendocardial ischemia in patients with hypertrophic cardiomyopathy (HCM), but the underlying mechanism remains unclear. We report a case of HCM with an abnormal blood pressure response and subendocardial ischemia, in which the analysis of heart rate variability revealed exercise-induced vagal enhancement. The present case highlights the possible mechanism linking abnormal blood pressure response and left ventricular subendocardial ischemia in patients with HCM.

  5. Prospective study of the frequency of hepatic hemangiomas in infants with multiple cutaneous infantile hemangiomas.

    PubMed

    Horii, Kimberly A; Drolet, Beth A; Frieden, Ilona J; Baselga, Eulalia; Chamlin, Sarah L; Haggstrom, Anita N; Holland, Kristen E; Mancini, Anthony J; McCuaig, Catherine C; Metry, Denise W; Morel, Kimberly D; Newell, Brandon D; Nopper, Amy J; Powell, Julie; Garzon, Maria C

    2011-01-01

    Multiple cutaneous infantile hemangiomas have been associated with hepatic hemangiomas. Screening of infants with five or more cutaneous infantile hemangiomas with abdominal ultrasound is often recommended. The aim of this study was to determine the frequency with which hepatic hemangiomas occur in infants with five or more cutaneous infantile hemangiomas compared to those with one to four cutaneous infantile hemangiomas and to characterize the clinical features of these hepatic hemangiomas. A multicenter prospective study of children with cutaneous infantile hemangiomas was conducted at pediatric dermatology clinics at Hemangioma Investigator Groups sites in the United States, Canada, and Spain between October 2005 and December 2008. Data were collected, and abdominal ultrasonography was performed on infants younger than 6 months old with five or more cutaneous infantile hemangiomas and those with one to four cutaneous infantile hemangiomas. Twenty-four (16%) of the 151 infants with five or more cutaneous infantile hemangiomas had hepatic hemangiomas identified on abdominal ultrasound, versus none of the infants with fewer than five (p = 0.003). Two of the 24 infants with hepatic hemangiomas received treatment specifically for their hepatic hemangiomas. Infants with five or more cutaneous infantile hemangiomas have a statistically significantly greater frequency of hepatic hemangiomas than those with fewer than 5. These findings support the recommendation of five or more cutaneous infantile hemangiomas as a threshold for screening infants younger than 6 months old for hepatic hemangiomas but also demonstrate that the large majority of these infants with hepatic hemangiomas do not require treatment.

  6. Short term reduction of left ventricular mass in primary hypertrophic cardiomyopathy by octreotide injections.

    PubMed Central

    Günal, A. I.; Işik, A.; Celiker, H.; Eren, O.; Celebi, H.; Günal, S. Y.; Lüleci, C.

    1996-01-01

    Growth factors have been shown to be associated with primary hypertrophic cardiomyopathy. Octreotide, a long acting somatostatin analogue, can prevent the stimulating effect of growth factors and decrease the left ventricular mass in patients with acromegaly. In the light of these results, three patients with primary hypertrophic cardiomyopathy were treated with subcutaneous octreotide (50 micrograms three times a day during the first week and 100 micrograms twice a day for the following three weeks). Initially, two patients were in New York Heart Association class II in and one was in class III. At the end of a four week treatment session all were in class I. There were significant decreases in left ventricular posterior wall thickness, interventricular septum thickness, and left ventricular mass in all three patients. Both left ventricular end diastolic and end systolic diameters had increased in all of the patients at the end of the fourth week. Two of three patients showed improved diastolic filling: their hyperdynamic systolic performance returned to normal. No side effects were observed during octreotide treatment. The considerable improvement obtained with the short term octreotide treatment in patients with primary hypertrophic cardiomyopathy seems promising. PMID:8944587

  7. Altered hypertrophic chondrocyte kinetics in GDF-5 deficient murine tibial growth plates.

    PubMed

    Mikic, B; Clark, R T; Battaglia, T C; Gaschen, V; Hunziker, E B

    2004-05-01

    The growth/differentiation factors (GDFs) are a subgroup of the bone morphogenetic proteins best known for their role in joint formation and chondrogenesis. Mice deficient in one of these signaling proteins, GDF-5, exhibit numerous skeletal abnormalities, including shortened limb bones. The primary aim of this study was determine whether GDF-5 deficiency would alter the growth rate in growth plates from the long bones in mice and, if so, how this is achieved. Stereologic and cell kinetic parameters in proximal tibial growth plates from 5-week-old female GDF-5 -/- mice and control littermates were examined. GDF-5 deficiency resulted in a statistically significant reduction in growth rate (-14%, p=0.03). The effect of genotype on growth rate was associated with an altered hypertrophic phase duration, with hypertrophic cells from GDF-5 deficient mice exhibiting a significantly longer phase duration compared to control littermates (+25%, p=0.006). These data suggest that one way in which GDF-5 might modulate the rate of endochondral bone growth could be by affecting the duration of the hypertrophic phase in growth plate chondrocytes.

  8. HOXA9 regulates angiogenesis in human hypertrophic scars: induction of VEGF secretion by epidermal stem cells

    PubMed Central

    Cao, Peng-Fei; Xu, Ying-Bin; Tang, Jin-Ming; Yang, Rong-Hua; Liu, Xu-Sheng

    2014-01-01

    Hypertrophic scars are fibroproliferative disorders of excessive wound healing after skin injury. Vascular endothelial growth factor (VEGF)-induced angiogenesis plays a major role in fibrogenesis and hypertrophic scar formation. Over recent years, there has been a major interest in homeobox gene regulation of VEGF-VEGFR mediated angiogenesis in dermal tissue. In the current study, we investigated the role of homeobox genes in the epidermis, for their role in angiogenesis, with a focus on epidermal-mesenchymal interactions. As epidermal stem cells (ESCs) have a central role in epidermal homeostasis, we tested the hypothesis that these cells play a key role in the pathogenesis of hypertrophic scars through the HOXA9-VEGF/VEGFR signaling pathways. We found significant differences in the expression of homeobox A9 in hyperplastic scar tissue during different phases of development. These differences coincided with similar regulations in VEGF expression and with the distribution of ESCs. HOXA9 is expressed in cultured human ESCs in vitro. Antisense suppression of HOXA9 expression was found to suppress VEGF levels in ESCs. Together these findings indicate that homeobox A9 regulates the expression of VEGF in ESCs. PMID:25031718

  9. Acute effects of sildenafil and dobutamine in the hypertrophic and failing right heart in vivo

    PubMed Central

    2013-01-01

    Abstract The purpose of this study was to investigate whether acute intravenous administration of the phosphodiesterase type 5 (PDE-5) inhibitor sildenafil in a single clinically relevant dose improves the in vivo function of the hypertrophic and failing right ventricle (RV). Wistar rats () were subjected to pulmonary trunk banding (PTB) causing RV hypertrophy and failure. Four weeks after surgery, they were randomized to receive an intravenous bolus dose of sildenafil (1 mg/kg; ), vehicle (), or dobutamine (10 μg/kg; ). Invasive RV pressures were recorded continuously, and transthoracic echocardiography was performed 1, 5, 15, 25, 35, 50, 70, and 90 minutes after injecting the bolus. Cardiac function was compared to baseline measurements to evaluate the in vivo effects of each specific treatment. The PTB procedure caused significant hypertrophy, cardiac fibrosis, and reduction in RV function evaluated by echocardiography (TAPSE) and invasive pressure measurements. Sildenafil did not improve the function of the hypertrophic failing right heart in vivo, measured by TAPSE, RV systolic pressure (RVsP), and dp/dtmax. Dobutamine improved RV function 1 minute after injection measured by TAPSE ( vs. cm; ), RVsP ( vs. mmHg; ), and dp/dtmax ( vs. mmHg/s; ). Acute administration of the PDE-5 inhibitor sildenafil in a single clinically relevant dose did not modulate the in vivo function of the hypertrophic failing right heart of the rat measured by echocardiography and invasive hemodynamics. In the same model, dobutamine acutely improved RV function. PMID:24618544

  10. Benazepril and subclinical feline hypertrophic cardiomyopathy: A prospective, blinded, controlled study

    PubMed Central

    Di Fruscia, Rocky

    2006-01-01

    Abstract Twenty-one cats with hypertrophic cardiomyopathy were enrolled in this study to determine if the administration of benazepril (0.5 mg/kg body weight [BW], PO, q24h) to cats with subclinical hypertrophic cardiomyopathy improves cardiac diastolic function and reverses left ventricular hypertrophy when compared with diltiazem controlled delivery (CD) (10 mg/kg BW, PO, q24h). Cats were evaluated at day 0 and after 3 and 6 months of therapy. In the benazepril group (n = 11), the diastolic transmitral flow of the E and A waves ratio (E/A ratio) increased significantly between 0 and 6 months (P = 0.009) and the thickness of the left ventricular free wall in systole (LVFWs) decreased significantly between 0 and 3 months (P = 0.04). In the diltiazem CD group (n = 5), none of the parameters varied significantly throughout the study. There was no difference between the benazepril and the diltiazem CD group throughout the study. Therefore, the variations observed for the E/A ratio and the LVFWs may have been incidental. Further studies will be needed to establish the role of benazepril in subclinical hypertrophic cardiomyopathy in cat. PMID:16734369

  11. Aberrant α-Adrenergic Hypertrophic Response in Cardiomyocytes from Human Induced Pluripotent Cells

    PubMed Central

    Földes, Gabor; Matsa, Elena; Kriston-Vizi, János; Leja, Thomas; Amisten, Stefan; Kolker, Ljudmila; Kodagoda, Thusharika; Dolatshad, Nazanin F.; Mioulane, Maxime; Vauchez, Karine; Arányi, Tamás; Ketteler, Robin; Schneider, Michael D.; Denning, Chris; Harding, Sian E.

    2014-01-01

    Summary Cardiomyocytes from human embryonic stem cells (hESC-CMs) and induced pluripotent stem cells (hiPSC-CMs) represent new models for drug discovery. Although hypertrophy is a high-priority target, we found that hiPSC-CMs were systematically unresponsive to hypertrophic signals such as the α-adrenoceptor (αAR) agonist phenylephrine (PE) compared to hESC-CMs. We investigated signaling at multiple levels to understand the underlying mechanism of this differential responsiveness. The expression of the normal α1AR gene, ADRA1A, was reversibly silenced during differentiation, accompanied by ADRA1B upregulation in either cell type. ADRA1B signaling was intact in hESC-CMs, but not in hiPSC-CMs. We observed an increased tonic activity of inhibitory kinase pathways in hiPSC-CMs, and inhibition of antihypertrophic kinases revealed hypertrophic increases. There is tonic suppression of cell growth in hiPSC-CMs, but not hESC-CMs, limiting their use in investigation of hypertrophic signaling. These data raise questions regarding the hiPSC-CM as a valid model for certain aspects of cardiac disease. PMID:25418732

  12. Co-localization of LTBP-2 with FGF-2 in fibrotic human keloid and hypertrophic scar.

    PubMed

    Sideek, Mohamed A; Teia, Abdulrahman; Kopecki, Zlatko; Cowin, Allison J; Gibson, Mark A

    2016-02-01

    We have recently shown that Latent transforming growth factor-beta-1 binding protein-2 (LTBP-2) has a single high-affinity binding site for fibroblast growth factor-2 (FGF-2) and that LTBP-2 blocks FGF-2 induced cell proliferation. Both proteins showed strong co-localisation within keloid skin from a single patient. In the current study, using confocal microscopy, we have investigated the distribution of the two proteins in normal and fibrotic skin samples including normal scar tissue, hypertrophic scars and keloids from multiple patients. Consistently, little staining for either protein was detected in normal adult skin and normal scar samples but extensive co-localisation of the two proteins was observed in multiple examples of hypertrophic scars and keloids. LTBP-2 and FGF-2 were co-localised to fine fibrous elements within the extracellular matrix identified as elastic fibres by immunostaining with anti-fibrillin-1 and anti-elastin antibodies. Furthermore, qPCR analysis of RNA samples from multiple patients confirmed dramatically increased expression of LTBP-2 and FGF-2, similar TGF-beta 1, in hypertrophic scar compared to normal skin and scar tissue. Overall the results suggest that elevated LTBP-2 may bind and sequester FGF-2 on elastic fibres in fibrotic tissues and modulate FGF-2's influence on the repair and healing processes.

  13. Porous decellularized tissue engineered hypertrophic cartilage as a scaffold for large bone defect healing.

    PubMed

    Cunniffe, Gráinne M; Vinardell, Tatiana; Murphy, J Mary; Thompson, Emmet M; Matsiko, Amos; O'Brien, Fergal J; Kelly, Daniel J

    2015-09-01

    Clinical translation of tissue engineered therapeutics is hampered by the significant logistical and regulatory challenges associated with such products, prompting increased interest in the use of decellularized extracellular matrix (ECM) to enhance endogenous regeneration. Most bones develop and heal by endochondral ossification, the replacement of a hypertrophic cartilaginous intermediary with bone. The hypothesis of this study is that a porous scaffold derived from decellularized tissue engineered hypertrophic cartilage will retain the necessary signals to instruct host cells to accelerate endogenous bone regeneration. Cartilage tissue (CT) and hypertrophic cartilage tissue (HT) were engineered using human bone marrow derived mesenchymal stem cells, decellularized and the remaining ECM was freeze-dried to generate porous scaffolds. When implanted subcutaneously in nude mice, only the decellularized HT-derived scaffolds were found to induce vascularization and de novo mineral accumulation. Furthermore, when implanted into critically-sized femoral defects, full bridging was observed in half of the defects treated with HT scaffolds, while no evidence of such bridging was found in empty controls. Host cells which had migrated throughout the scaffold were capable of producing new bone tissue, in contrast to fibrous tissue formation within empty controls. These results demonstrate the capacity of decellularized engineered tissues as 'off-the-shelf' implants to promote tissue regeneration.

  14. [Keeping dogs indoor aggravates infantile atopic dermatitis].

    PubMed

    Endo, K; Hizawa, T; Fukuzumi, T; Kataoka, Y

    1999-12-01

    We had a two-month-old girl with severe dermatitis since birth. Her serum RAST to HD, Df and Dp were 1.06, 0.03 and 0.01 Ua/ml respectively. A Yorkshire terrier were kept at her mother's parents' home where the patient had lived for a month since birth. Her eczema, which became markedly aggravated whenever she visited there, improved after the elimination of the dog. We investigated the relationship between keeping dogs and infantile atopic dermatitis. We studied 368 patients under the age of two years (211 boys and 157 girls). Skin symptoms were graded globally mild, moderate or severe. Total serum IgE and specific antibody titer to dog dander were measured. We asked them whether they kept dogs and specifically, where they kept dogs, outdoor, indoor, in their own house, or in their grandparents' house. 197 patients had no contact with dogs, 90 patients kept dogs outdoor and 81 patients did indoor. The positive rate of RAST (> or = 0.7 Ua/ml) to dog dander was 6.1%, 17.8% and 46.9% respectively in these three groups. There were strong statistical differences between three groups. On the other hand, among the 81 patients who kept indoor, the RAST positive rates were almost same regarding where the dogs were kept, in their own house or their grandparents' house. Interestingly this difference happens only with patients under the age of 3 months. Patients older than 4 months showed no significant differences in the positive RAST rates, whether they kept dogs indoor or outdoor. This suggests the sensitization occurs before the age of 3 months. Speaking of symptoms, patients who kept dogs indoor showed significantly more severe symptoms than patients who had no contact with dogs and patients who kept dogs outdoor. There was no significant difference between the symptoms of patients who had no contact with dogs and those of patients who kept dogs outdoor. This implies the patient's symptom will improve only by moving the dog out of the house.

  15. From Infantile Citizens to Infantile Institutions: The Metaphoric Transformation of Political Economy in the 2008 Housing Market Crisis

    ERIC Educational Resources Information Center

    Foley, Megan

    2012-01-01

    The logic of political economy depends on a domestic metaphor, using the "oikos" or household as a model for the "polis." Historically, this metaphor has imagined citizens as the children of a paternal state. However during the 2008 housing crisis, this metaphor was turned upside down, depicting citizens as the parents of infantile state…

  16. [Alterations in two enzymes: superoxide dismutase and glutathion peroxidase in developmental infantile psychosis (infantile autism) (author's transl)].

    PubMed

    Golse, B; Debray-Ritzen, P; Durosay, P; Puget, K; Michelson, A M

    1978-11-01

    After they gave a classification of the different circumstances under which the infantile autism can exist, the authors expose the data of their researches on the intermediate metabolism of oxygen of those children. Superoxyde dismutase I and glutathion peroxydase activities seem to be abnormal in the erythrocytes whereas only superoxyde dismutase I activity appears to be abnormal in the platelets.

  17. Fatal infantile cardiac glycogenosis with phosphorylase kinase deficiency and a mutation in the gamma2-subunit of AMP-activated protein kinase.

    PubMed

    Akman, Hasan O; Sampayo, James N; Ross, Fiona A; Scott, John W; Wilson, Gregory; Benson, Lee; Bruno, Claudio; Shanske, Sara; Hardie, D Grahame; Dimauro, Salvatore

    2007-10-01

    A 10-wk-old infant girl with severe hypertrophy of the septal and atrial walls by cardiac ultrasound, developed progressive ventricular wall thickening and died of aspiration pneumonia at 5 mo of age. Postmortem examination revealed ventricular hypertrophy and massive atrial wall thickening due to glycogen accumulation. A skeletal muscle biopsy showed increased free glycogen and decreased activity of phosphorylase b kinase (PHK). The report of a pathogenic mutation (R531Q) in the gene (PRKAG2) encoding the gamma2 subunit of AMP-activated protein kinase (AMPK) in three infants with congenital hypertrophic cardiomyopathy, glycogen storage, and "pseudo PHK deficiency" prompted us to screen this gene in our patient. We found a novel (R384T) heterozygous mutation in PRKAG2, affecting an arginine residue in the N-terminal AMP-binding domain. Like R531Q, this mutation reduces the binding of AMP and ATP to the isolated nucleotide-binding domains, and prevents activation of the heterotrimer by metabolic stress in intact cells. The mutation was not found in DNA from the patient's father, the only available parent, and is likely to have arisen de novo. Our studies confirm that mutations in PRKAG2 can cause fatal infantile cardiomyopathy, often associated with apparent PHK deficiency.

  18. [Mode of splitting of the second heart sound in patients with hypertrophic cardiomyopathy].

    PubMed

    Fukuda, N; Oki, T; Sakai, H; Asai, M; Ohshima, C; Kusaka, Y; Tominaga, T; Murao, A; Niki, T; Mori, H

    1983-06-01

    Mode of the splitting of the second heart sound ( IIs ) and left ventricular systolic time intervals (STIs) in patients (pts) with hypertrophic cardiomyopathy were compared with those in hypertension (HT) with the global hypertrophy of the left ventricular wall. Forty-seven pts with hypertrophic cardiomyopathy [non-obstructive type (HCM, 30 pts), obstructive type (HOCM, 17 pts)] and 21 pts with HT were studied. The pts with HCM were classified as septal hypertrophic type (19 pts) and apical hypertrophic type (11 pts) on the basis of the echocardiographic findings. The pts with HOCM were classified as resting type (13 pts) and latent type (provoked by amyl nitrite: 4 pts) on the basis of the obstructive sign at rest. Mode of the splitting of the IIs : a) The pts with HCM showed a wide splitting of the IIs . The mean split interval during held expiration (IIA-IIP) was 41.0 +/- 9.9 msec. Twenty pts (67%) showed abnormal respiratory splitting. The mean IIA-IIP interval in septal hypertrophic type (45.3 +/- 9.0 msec) was significantly wider than that in apical hypertrophic type (33.6 +/- 6.7 msec) (p less than 0.05). There was a positive correlation between IIA-IIP interval and the thickness of the upper portion of the interventricular septum (r = 0.63). b) Nine out of 13 pts with resting type of HOCM showed a paradoxical (reversed) splitting with a mean IIA-IIP interval of -23.8 +/- 24.4 msec. On the other hand, pts with latent type showed a wide splitting similar to HCM with a mean IIA-IIP interval of 35.0 +/- 7.1 msec. c) The pts with HT showed a single IIs or physiological splitting. The mean IIA-IIP interval was 14.5 +/- 9.3 msec, which was significantly decreased than that of normals or the pts with HCM (p less than 0.01). Left ventricular systolic time intervals: a) The pts with an either type of HCM showed a short corrected left ventricular electromechanical systole [(Q-IIA)c] due to the shortening of the corrected left ventricular ejection time (LVETc). b) The

  19. Infantile Hepatic Hemangioendothelioma: An Uncommon Cause of Persistent Pulmonary Hypertension in a Newborn Infant

    PubMed Central

    Chatmethakul, Trassanee; Bhat, Ramachandra; Alkaabi, Maryam; Siddiqui, Abdul; Peevy, Keith; Zayek, Michael

    2016-01-01

    Multifocal and diffuse infantile hepatic hemangioendotheliomas commonly present with signs of high-output congestive heart failure. In addition, prolonged persistent pulmonary overcirculation eventually leads to the development of pulmonary hypertension at a later age. We report a 2-day old, full-term infant with multifocal, large infantile hepatic hemangioendothelioma, who presented with an early onset of pulmonary hypertension, managed successfully with supportive care and systemic therapy directed toward the involution of infantile hepatic hemangioendothelioma. PMID:27468364

  20. Infantile Hepatic Hemangioendothelioma: An Uncommon Cause of Persistent Pulmonary Hypertension in a Newborn Infant.

    PubMed

    Chatmethakul, Trassanee; Bhat, Ramachandra; Alkaabi, Maryam; Siddiqui, Abdul; Peevy, Keith; Zayek, Michael

    2016-07-01

    Multifocal and diffuse infantile hepatic hemangioendotheliomas commonly present with signs of high-output congestive heart failure. In addition, prolonged persistent pulmonary overcirculation eventually leads to the development of pulmonary hypertension at a later age. We report a 2-day old, full-term infant with multifocal, large infantile hepatic hemangioendothelioma, who presented with an early onset of pulmonary hypertension, managed successfully with supportive care and systemic therapy directed toward the involution of infantile hepatic hemangioendothelioma.

  1. Repair of bone defects in vivo using tissue engineered hypertrophic cartilage grafts produced from nasal chondrocytes.

    PubMed

    Bardsley, Katie; Kwarciak, Agnieska; Freeman, Christine; Brook, Ian; Hatton, Paul; Crawford, Aileen

    2017-01-01

    The regeneration of large bone defects remains clinically challenging. The aim of our study was to use a rat model to use nasal chondrocytes to engineer a hypertrophic cartilage tissue which could be remodelled into bone in vivo by endochondral ossification. Primary adult rat nasal chondrocytes were isolated from the nasal septum, the cell numbers expanded in monolayer culture and the cells cultured in vitro on polyglycolic acid scaffolds in chondrogenic medium for culture periods of 5-10 weeks. Hypertrophic differentiation was assessed by determining the temporal expression of key marker genes and proteins involved in hypertrophic cartilage formation. The temporal changes in the genes measured reflected the temporal changes observed in the growth plate. Collagen II gene expression increased 6 fold by day 7 and was then significantly downregulated from day 14 onwards. Conversely, collagen X gene expression was detectable by day 14 and increased 100-fold by day 35. The temporal increase in collagen X expression was mirrored by increases in alkaline phosphatase gene expression which also was detectable by day 14 with a 30-fold increase in gene expression by day 35. Histological and immunohistochemical analysis of the engineered constructs showed increased chondrocyte cell volume (31-45 μm), deposition of collagen X in the extracellular matrix and expression of alkaline phosphatase activity. However, no cartilage mineralisation was observed in in vitro culture of up to 10 weeks. On subcutaneous implantation of the hypertrophic engineered constructs, the grafts became vascularised, cartilage mineralisation occurred and loss of the proteoglycan in the matrix was observed. Implantation of the hypertrophic engineered constructs into a rat cranial defect resulted in angiogenesis, mineralisation and remodelling of the cartilage tissue into bone. Micro-CT analysis indicated that defects which received the engineered hypertrophic constructs showed 38.48% in bone volume

  2. [Acupoint Selection Laws for Massage Therapy of Infantile Anorexia: an Analysis Based on Data Mining].

    PubMed

    Liu, Kai; Wang Jie; Wang, Yan-guo

    2016-06-01

    Massage prescriptions for treating infantile anorexia in Chinese Academic Journal Full-Text Database (CNKI, 1979-2012), Chinese Scientific and Technological Journal Full-Text Database (VIP, 1989-2012) and Wanfang Database (1990-2012) were collected. By using Chinese Medicine Inheritance Auxiliary Platform (Version 2.0) Software, 286 massage prescriptions for treatment of infantile anorexia were screened involved 76 acupoints, 20 commonly used acupoints, and 57 core acupoint combinations. Infantile Tuina specific points were used as main acupoints in massage therapy for infantile anorexia, and core acupoints covered Jizhu, Pi meridian, abdomen, Nei-Bagua, Zusanli (ST36), and Ban-men.

  3. Mitochondrial ND5 12338T>C variant is associated with maternally inherited hypertrophic cardiomyopathy in a Chinese pedigree.

    PubMed

    Liu, Zhong; Song, Yanrui; Gu, Shulian; He, Xiangyu; Zhu, Xiaoyu; Shen, Yaoyao; Wu, Bifeng; Wang, Wei; Li, Shishi; Jiang, Pingping; Lu, Jianhua; Huang, Wendong; Yan, Qingfeng

    2012-09-15

    Hypertrophic cardiomyopathy is a primary disorder characterized by asymmetric thickening of the septum and left ventricular wall, which affects 1 in 500 individuals in the general population. Mutations in mitochondrial DNA have been found to be one of the most important causes of hypertrophic cardiomyopathy. Here we report the clinical, genetic and molecular characterization of a Han Chinese family with a likely maternally transmitted hypertrophic cardiomyopathy. Four (2 men/2 women) of 5 matrilineal relatives in this 3-generation family exhibited the variable severity and age at onset of 44 to 79 years old. Sequence analysis of the entire mitochondrial DNA in this pedigree identified the known homoplasmic ND5 12338T>C variant. This mitochondrial DNA haplogroup belongs to the Eastern Asian F2a. The 12338T>C variant, highly evolutionarily conserved, resulted in the replacement of the translation initiating methionine with a threonine, shortening the ND5 polypeptide by 2 amino acids. The occurrence of ND5 12338T>C variant exclusively in maternal members of this Chinese family suggested that the 12338T>C variant is associated with maternally inherited hypertrophic cardiomyopathy. Our findings will provide theoretical basis for genetic counseling of maternally inherited hypertrophic cardiomyopathy.

  4. Nonobstructive Hypertrophic Cardiomyopathy Out of the Shadows: Known from the Beginning but Largely Ignored … Until Now.

    PubMed

    Maron, Barry J; Rowin, Ethan J; Maron, Martin S; Braunwald, Eugene

    2017-02-01

    Hypertrophic cardiomyopathy was first recognized as a disease of obstruction to left ventricular outflow, hence, its early names and acronyms such as idiopathic hypertrophic subaortic obstruction. The nonobstructive subset of patients, incapable of developing mechanical impedance to left ventricular outflow at rest or with physiologic exercise, was initially recognized by the Braunwald group at the National Institutes of Health >50 years ago in the preimaging era, and is now recognized as comprising about one-third of hypertrophic cardiomyopathy patients. Nevertheless, until recently, and for 25 years, this substantial patient subset has been largely ignored and incompletely understood in terms of its clinical significance and consequences. However, the newfound interest in nonobstructive hypertrophic cardiomyopathy with recent cohort data permits more robust clarity of this subset, as well as the overall disease spectrum. As a group, patients with nonobstructive disease experience a largely stable clinical course at relatively low risk for progressive heart failure symptoms to New York Heart Association class III/IV in (90%). On the other hand, there is a small but important subgroup of 10% at risk for developing drug-refractory advanced heart failure sufficient to justify consideration for heart transplant as the only definitive treatment option. This recognition closes a significant gap in understanding the natural history of hypertrophic cardiomyopathy, also underscoring that the disease is not uniformly grim but instead consistent with extended longevity, thereby providing many patients with a measure of reassurance.

  5. Osteomyelitis of Maxilla in Infantile With Periorbital Cellulitis

    PubMed Central

    Feng, Zhiqiang; Chen, Xufeng; Cao, Fengdi; Lai, Renfa; Lin, Qiang

    2015-01-01

    Abstract Infantile osteomyelitis (IO) is an uncommon and life-threatening disease that can be misdiagnosed. Early diagnosis and treatment can reduce the incidence of sequel. In this case report, we present a 25-day-old male infant with apparent edema in the entire left periorbital region. Intraorally, the edema occurred in the mucosa of the upper left alveolar region, and 2 draining fistulas with exuded yellow-white pus were present in the left alveolar region. The patient received constant monitoring after admission, and was diagnosed as IO of the maxilla with periorbital cellulitis and sepsis. He also received incision and drainage and anti-inflammatory treatment. After discharge, the patient was followed up for 3 months by phone call, but no recurrence of symptoms was found. Infantile osteomyelitis is rare in clinic. This case report reminds us of the significance of IO and provides some implications on its diagnosis and treatment. PMID:26448016

  6. [Infantile haemangioma: When investigation is necessary and current therapeutic developments].

    PubMed

    Eschard, C

    2015-01-01

    Infantile haemangioma (IH) is the most frequent benign tumour seen in children. In most cases, diagnosis is made chiefly on clinical grounds, and because the condition tends to subside naturally within several years and without any major sequelae, therapeutic abstention is the rule. However, a number of additional investigations may be necessary: where the clinical picture is atypical or potentially confusing, where the condition may affect adjacent or remote structures, in screening for associated anomalies in certain syndromal forms which practitioners must be able to recognise. Such investigations facilitate therapeutic indications for forms of haemangioma likely to lead to complications. The most important recent therapeutic development has been the discovery of the spectacular efficacy of beta-blockers (propranolol) upon the development kinetics of infantile haemangioma, greatly transforming the prognosis for these haemangiomas at risk.

  7. Alpha 1-antitrypsin deficiency and infantile liver disease.

    PubMed Central

    McPhie, J L; Binnie, S; Brunt, P W

    1976-01-01

    Infantile liver disease with deficiency of serum alpha1-antitrypsin is illustrated by a description of the clinical, biochemical, and pathological findings in two affected families. The simplicity of the diagnostic tests is emphasized. Review of 61 biopsies of liver from children and adolescents provided a further 3 cases. It is prudent to exclude this metabolic defect in children with a history of "neonatal hepatitis". Images FIG. 1 FIG. 2 PMID:1085610

  8. A Histologically Diagnosed Case with Infantile Osteopetrosis Complicated by Hypopituitarism

    PubMed Central

    Diniz, Gulden; Olukman, Ozgur; Calkavur, Sebnem; Buyukinan, Muammer; Altay, Canan

    2015-01-01

    Malignant infantile osteopetrosis is a rarely seen severe disorder which appears early in life with general sclerosis of the skeleton. It is caused by functionally defective osteoclasts which fail to resorb bone. Affected infants can exhibit a wide spectrum of clinical manifestations including impaired hematopoiesis, hepatosplenomegaly, visual impairment, and hypocalcemia. With the exception of secondary hyperparathyroidism, involvement of the endocrine system seems to be quite rare. Hypopituitarism is defined as underproduction of the growth hormone in combination with deficiencies of other pituitary hormones. Any lesion that damages hypothalamus, pituitary stalk, or anterior pituitary can cause secondary hypopituitarism. In this report, we presented a rare combination of malignant infantile osteopetrosis and secondary hypopituitarism in a newborn who presented predominantly with endocrinological symptoms. This is the first case report of malignant infantile osteopetrosis accompanied by hypopituitarism secondary to sclerosis of the sella turcica. On the other hand, this is a very interesting case which was diagnosed based on histological examination of bone marrow biopsy specimens despite lack of any clinical suspicion. PMID:26576309

  9. Linkage analysis of late-infantile neuronal ceroid-lipofuscinosis

    SciTech Connect

    Sharp, J.; Wheeler, R.B.; Jaervelae, I.

    1995-06-05

    The neuronal ceroid-lipofuscinoses (NCL) are a group of neurodegenerative disorders with an autosomal-recessive pattern of inheritance. There are 3 main categories of childhood NCL, namely, infantile, late-infantile, and juvenile NCL. These can be distinguished on the basis of age of onset, clinical course, and histopathology. A number of variant forms of NCL have also been mapped to chromosome areas 1p32 and 16p12, respectively. The gene for late-infantile NCL (LINCL), CLN2, has been excluded from both these loci, but its location is as yet unknown. Recently, CLN5, the gene for the Finnish variant form of LINCL, was mapped to 13q21.1-32. Using the 3 microsatellite markers which were most tightly linked to CLN5, we have excluded CLN2 from this region using a subset of 17 families. Thus, CLN2 represents a fourth distinct genetic locus involved in the pathogenesis of NCL. 6 refs., 1 fig., 1 tab.

  10. Acupuncture in Practice: Investigating Acupuncturists' Approach to Treating Infantile Colic

    PubMed Central

    2013-01-01

    Infantile colic is common, but no safe and effective conventional treatment exists. The use of acupuncture has increased despite weak evidence. This practitioner survey explores and discusses how infantile colic is regarded and treated in Traditional Chinese Medicine (TCM). The study is based on personal communication with 24 acupuncturists from nine countries. These acupuncturists specialize in pediatric acupuncture and represent different styles of acupuncture. Their experiences are discussed and related to relevant books and articles. Informants claimed good results when treating infants with colic. The TCM patterns commonly described by informants matched the textbooks to a great extent. The most common syndromes were “stagnation of food” and “Spleen Qi Xu.” Regarding treatment, some informants followed the teachers' and the textbook authors' advice on differentiated treatment according to syndrome. The points used most often were LI4, ST36, and Sifeng. Other informants treated all infants alike in one single point, LI4. The results demonstrate the diversity of TCM. The use of acupuncture for infantile colic presents an interesting option, but further research is needed in order to optimize the effects and protect infants from unnecessary or less effective treatment. PMID:24324513

  11. Infantile acne: a retrospective study of 16 cases.

    PubMed

    Hello, Muriel; Prey, Sorilla; Léauté-Labrèze, Christine; Khammari, Amir; Dreno, Brigitte; Stalder, Jean-François; Barbarot, Sébastien

    2008-01-01

    Infantile acne is a rare and poorly understood disorder. The objective of this study was to improve our knowledge about the epidemiology and clinical course of infantile acne, and evaluate approaches to treatment. This two-center retrospective study covered the period between 1985 and 2007. Inclusion criteria were: (i) age less than 24 months when lesions appeared; (ii) presence of both inflammatory and noninflammatory lesions; (iii) persistence of lesions for at least 2 months. The data were drawn from clinical and photographic records, followed by administration of a telephone questionnaire to parents. It was proposed that each case be reviewed on the basis of the child's appearance and score on an acne scar clinical grading scale. Sixteen children were included. Nine had a family history of severe adolescent acne. The average duration of disease was 22 months. Two patients had been effectively treated with oral isotretinoin. More than half of the patients exhibited scars. We re-examined five children (average acne scar clinical grading scale score = 12/540). On the basis of the frequency of scarring, and the severity and average duration of lesions, the use of oral retinoids in severe infantile acne warrants evaluation.

  12. Myocardial edema in Takotsubo syndrome mimicking apical hypertrophic cardiomyopathy: An insight into diagnosis by cardiovascular magnetic resonance.

    PubMed

    Izgi, Cemil; Ray, Sanjoy; Nyktari, Evangelia; Alpendurada, Francisco; Lyon, Alexander R; Rathore, Sudhir; Baksi, Arun John

    2015-01-01

    Myocardial edema is one of the characteristic features in the pathogenesis of Takotsubo syndrome. We report a middle aged man who presented with typical clinical and echocardiographic features of apical variant of Takotsubo syndrome. However, a cardiovascular magnetic resonance study performed 10 days after presentation did not show any apical 'ballooning' but revealed features of an apical hypertrophic cardiomyopathy on cine images. Tissue characterization with T2 weighted images proved severe edema as the cause of significantly increased apical wall thickness. A follow-up cardiovascular magnetic resonance study was performed 5 months later which showed that edema, wall thickening and the appearance of apical hypertrophic cardiomyopathy all resolved, confirming Takotsubo syndrome as the cause of the initial appearance. As the affected myocardium most commonly involves the apical segments, an edema induced increase in apical wall thickness may lead to appearances of an apical hypertrophic cardiomyopathy rather than apical ballooning in the acute to subacute phase of Takotsubo syndrome.

  13. Myocardial metabolic, hemodynamic, and electrocardiographic significance of reversible thallium-201 abnormalities in hypertrophic cardiomyopathy

    SciTech Connect

    Cannon, R.O. 3d.; Dilsizian, V.; O'Gara, P.T.; Udelson, J.E.; Schenke, W.H.; Quyyumi, A.; Fananapazir, L.; Bonow, R.O. )

    1991-05-01

    Exercise-induced abnormalities during thallium-201 scintigraphy that normalize at rest frequently occur in patients with hypertrophic cardiomyopathy. However, it is not known whether these abnormalities are indicative of myocardial ischemia. Fifty patients with hypertrophic cardiomyopathy underwent exercise {sup 201}Tl scintigraphy and, during the same week, measurement of myocardial lactate metabolism and hemodynamics during pacing stress. Thirty-seven patients (74%) had one or more {sup 201}Tl abnormalities that completely normalized after 3 hours of rest; 26 had regional myocardial {sup 201}Tl defects, and 26 had apparent left ventricular cavity dilatation with exercise, with 15 having coexistence of these abnormal findings. Of the 37 patients with reversible {sup 201}Tl abnormalities, 27 (73%) had metabolic evidence of myocardial ischemia during rapid atrial pacing compared with four of 13 patients (31%) with normal {sup 201}Tl scans (p less than 0.01). Eleven patients had apparent cavity dilatation as their only {sup 201}Tl abnormality; their mean postpacing left ventricular end-diastolic pressure was significantly higher than that of the 13 patients with normal {sup 201}Tl studies (33 +/- 5 versus 21 +/- 10 mm Hg, p less than 0.001). There was no correlation between the angiographic presence of systolic septal or epicardial coronary arterial compression and the presence or distribution of {sup 201}Tl abnormalities. Patients with ischemic ST segment responses to exercise had an 80% prevalence rate of reversible {sup 201}Tl abnormalities and a 70% prevalence rate of pacing-induced ischemia. However, 69% of patients with nonischemic ST segment responses had reversible {sup 201}Tl abnormalities, and 55% had pacing-induced ischemia. Reversible {sup 201}Tl abnormalities during exercise stress are markers of myocardial ischemia in hypertrophic cardiomyopathy and most likely identify relatively underperfused myocardium.

  14. The Dynamic Nature of Hypertrophic and Fibrotic Remodeling of the Fish Ventricle

    PubMed Central

    Keen, Adam N.; Fenna, Andrew J.; McConnell, James C.; Sherratt, Michael J.; Gardner, Peter; Shiels, Holly A.

    2016-01-01

    Chronic pressure or volume overload can cause the vertebrate heart to remodel. The hearts of fish remodel in response to seasonal temperature change. Here we focus on the passive properties of the fish heart. Building upon our previous work on thermal-remodeling of the rainbow trout ventricle, we hypothesized that chronic cooling would initiate fibrotic cardiac remodeling, with increased myocardial stiffness, similar to that seen with pathological hypertrophy in mammals. We hypothesized that, in contrast to pathological hypertrophy in mammals, the remodeling response in fish would be plastic and the opposite response would occur following chronic warming. Rainbow trout held at 10°C (control group) were chronically (>8 weeks) exposed to cooling (5°C) or warming (18°C). Chronic cold induced hypertrophy in the highly trabeculated inner layer of the fish heart, with a 41% increase in myocyte bundle cross-sectional area, and an up-regulation of hypertrophic marker genes. Cold acclimation also increased collagen deposition by 1.7-fold and caused an up-regulation of collagen promoting genes. In contrast, chronic warming reduced myocyte bundle cross-sectional area, expression of hypertrophic markers and collagen deposition. Functionally, the cold-induced fibrosis and hypertrophy were associated with increased passive stiffness of the whole ventricle and with increased micromechanical stiffness of tissue sections. The opposite occurred with chronic warming. These findings suggest chronic cooling in the trout heart invokes a hypertrophic phenotype with increased cardiac stiffness and fibrosis that are associated with pathological hypertrophy in the mammalian heart. The loss of collagen and increased compliance following warming is particularly interesting as it suggests fibrosis may oscillate seasonally in the fish heart, revealing a more dynamic nature than the fibrosis associated with dysfunction in mammals. PMID:26834645

  15. Fate of the hypertrophic chondrocyte: microenvironmental perspectives on apoptosis and survival in the epiphyseal growth plate.

    PubMed

    Shapiro, Irving M; Adams, Christopher S; Freeman, Theresa; Srinivas, Vickram

    2005-12-01

    The goal of this review is to examine the fate of the hypertrophic chondrocyte in the epiphyseal growth plate and consider the impact of the cartilage microenvironment on cell survival and apoptosis. Early investigations pointed to a direct role of the hypertrophic chondrocyte in osteogenesis. The terminally differentiated cells were considered to undergo a dramatic change in shape, size, and phenotype, and assume the characteristics of an osteoblast. While some studies have supported the notion of transdifferentiation, much of the evidence in favor of reprogramming epiphyseal chondrocytes is circumstantial and based on microscopic evaluation of cells that are present at the chondro-osseous junction. Although these investigations provided a novel perspective on endochondral bone formation, they were flawed by the failure to consider the importance of stem cells in osseous tissue formation. Subsequent studies indicated that many, if not all, of the cells of the cartilage plate die through the induction of apoptosis. With respect to agents that mediate apoptosis, at the chondro-osseous junction, solubilization of mineral and hydrolysis of organic matrix constituents by septoclasts generates high local concentrations of ions, peptides, and glycans, and secreted matrix metalloproteins. Individually, and in combination, a number of these agents serve as potent chondrocyte apoptogens. We present a new concept: hypertrophic cells die through the induction of autophagy. In the cartilage microenvironment, combinations of local factors cause chondrocytes to express an initial survival phenotype and oxidize their own structural macromolecules to generate ATP. While delaying death, autophagy leads to a state in which cells are further sensitized to changes in the local microenvironment. One such change is similar to ischemia reperfusion injury, a condition that leads to tissue damage and cell death. In the growth cartilage, an immediate effect of this type of injury is

  16. Generation of Immortalized Equine Chondrocytes With Inducible Sox9 Expression Allows Control of Hypertrophic Differentiation.

    PubMed

    Gurusinghe, Saliya; Hilbert, Bryan; Trope, Gareth; Wang, Lexin; Bandara, Nadeeka; Strappe, Padraig

    2016-10-27

    Immortalization of chondrocytes enables long term in vitro culture; however, the chondrogenic capacity of transformed cells varies, thus highlighting the need to develop a proliferative and tuneable chondrocyte cell line where hypertrophic differentiation can be controlled. In this study the SV40 large T antigen and human telomerase reverse transcriptase were employed to immortalize pooled equine chondrocytes through lentiviral vector mediated transduction either singly or on combination. Transformed chondrocytes proliferated stably over multiple passages, but resulted in significantly lower expression of chondrocyte specific collagen II mRNA (P < 0.0001) and up regulation of the hypertrophic marker collagen X (P < 0.0001) in three dimensional cultures. A Col2a1 promoter driven GFP reporter was constructed for real time monitoring of chondrogenic differentiation and a significant increase in promoter activation was observed in cultures treated with the growth factor TGFβ-3 (P < 0.05). To recapitulate the native articular chondrocyte phenotype we further transduced large T antigen immortalized chondrocytes with lentiviral vectors allowing either constitutive or doxycycline inducible expression of Sox9. In 3D cultures, the Sox9 over-expressing chondrocytes secreted significantly higher levels of extracellular matrix polysaccharide glycosaminoglycan (P < 0.05), while up-regulating collagen II and Aggrecan mRNA (P < 0.05) in both expression systems with a similar patterns observed with imunohistochemical staining. High levels of collagen X mRNA and protein were maintained with constitutive sox9 reflecting hypetrophic differentiation but significantly lower expression could be achieved with inducible Sox9. In conclusion, immortalization of equine chondrocytes results in stable proliferation but a reduction of chondrogenic potential whilst modulation of sox9 expression enabled control of hypertrophic characteristics. J. Cell. Biochem. 9999: 1

  17. Thermal Injury Model in the Rabbit Ear with Quantifiable Burn Progression and Hypertrophic Scar.

    PubMed

    Friedrich, Emily E; Niknam-Bienia, Solmaz; Xie, Ping; Jia, Sheng-Xian; Hong, Seok Jong; Mustoe, Thomas A; Galiano, Robert D

    2017-04-01

    Hypertrophic scar is a major clinical outcome of deep-partial thickness to full thickness thermal burn injury. Appropriate animal models are a limitation to burn research due to the lack of, or access to, animal models which address the endpoint of hypertrophic scar. Lower species, such as rodents, heal mainly by contracture, which limits the duration of study. Higher species, such as pigs, heal more similarly to humans, but are associated with high cost, long duration for scar development, challenges in quantifying scar hypertrophy, and poor manageability. Here we present a quantifiable deep-partial thickness burn model in the rabbit ear. Burns were created using a dry-heated brass rod for 10 s and 20 s at 90°C. At the time of eschar excision on day 3, excisional wounds were made on the contralateral ear for comparison. Burn wound progression, in which the wound size expands over time is a major distinction between excisional and thermal injuries, was quantified at 1 h and 3 d after the injuries using calibrated photographs and histology and the size of the wounds was found to be unchanged from the initial wound size at 1 h, but 10% in the 20 s burn wounds at 3 d. A quantifiable hypertrophic scar, measured by histology as the scar elevation index, was present in both 20 s burn wounds and excisional wounds at day 35. ImageJ measurements revealed that the 20 s burn wound scars were 22% larger than the excisional wound scars and the 20 s burn scar area measurements from histology were 26% greater than in the excisional wound scar. The ability to measure both burn progression and scar hypertrophy over a 35-day time frame suits this model to screening early intervention burn wound therapeutics or scar treatments in a burn-specific scar model. This article is protected by copyright. All rights reserved.

  18. Suppressed inflammatory gene expression during human hypertrophic scar compared to normotrophic scar formation.

    PubMed

    van den Broek, Lenie J; van der Veer, Willem M; de Jong, Etty H; Gibbs, Susan; Niessen, Frank B

    2015-08-01

    Hypertrophic scar formation is a result of adverse cutaneous wound healing. The pathogenesis of hypertrophic scar formation is still poorly understood. A problem next to the lack of suitable animal models is that often normal skin is compared to hypertrophic scar (HTscar) and not to normotrophic scar (NTscar) tissue. Another drawback is that often only one time period after wounding is studied, while scar formation is a dynamic process over a period of several months. In this study, we compared the expression of genes involved in inflammation, angiogenesis and extracellular matrix (ECM) formation and also macrophage infiltration in biopsies obtained before and up to 52 weeks after standard surgery in five patients who developed HTscar and six patients who developed NTscar. It was found that HTscar formation coincided with a prolonged decreased expression of inflammatory genes (TNFα, IL-1α, IL-1RN, CCL2, CCL3, CXCL2, CXCR2, C3 and IL-10) and an extended increased expression of ECM-related genes (PLAU, Col3A1, TGFβ3). This coincided with a delayed but prolonged infiltration of macrophages (type 2) in HTscar tissue compared to NTscar tissue. These findings were supported by immunohistochemical localization of proteins coding for select genes named above. Our study emphasizes that human cutaneous wound healing is a dynamic process that is needed to be studied over a period of time rather than a single point of time. Taken together, our results suggest innate immune stimulatory therapies may be a better option for improving scar quality than the currently used anti-inflammatory scar therapies.

  19. Growth Hormone Induces Recurrence of Infantile Hemangiomas After Apparent Involution: Evidence of Growth Hormone Receptors in Infantile Hemangioma.

    PubMed

    Munabi, Naikhoba C O; Tan, Qian Kun; Garzon, Maria C; Behr, Gerald G; Shawber, Carrie J; Wu, June K

    2015-01-01

    Infantile hemangiomas (IHs) are the most common benign tumor of infancy, characterized by a natural history of early proliferation in the first months of life to eventual involution during childhood, often with residual fibrofatty tissue. Once involution has been achieved, IHs do not typically recur. We present two cases of exogenous growth hormone therapy resulting in the recurrence of IHs in late childhood, supported by radiological, immunohistochemical, in vitro, and in vivo evidence.

  20. Two different cardiomyopathies in a single patient : hypertrophic cardiomyopathy and left ventricular noncompaction.

    PubMed

    Sunbul, M; Ozben, B; Mutlu, B

    2013-05-01

    Hypertrophic cardiomyopathy is a complex and relatively common genetic disorder characterized by left ventricular (LV) hypertrophy, usually associated with a nondilated and hyperdynamic chamber with heterogeneous phenotypic expression and clinical course. On the other hand, LV noncompaction is an uncommon cardiomyopathy characterized by the persistence of fetal myocardium with a pattern of prominent trabecular meshwork and deep intertrabecular recesses, systolic dysfunction, and LV dilatation. We report a 29-year-old man with these two different inherent conditions. Our case raises the possibility of a genetic mutation common to these two clinical entities or different gene mutations existing in the same individual.

  1. Indomethacin Therapy for Hypertrophic Pulmonary Osteoarthropathy in Patients With Bronchogenic Carcinoma

    PubMed Central

    Leung, Felix W.; Williams, Adrian J.; Fan, Peng

    1985-01-01

    Hypertrophic pulmonary osteoarthropathy (HPO) is a disabling complication of lung cancer often requiring thoracotomy with vagotomy for control of pain. This condition was confirmed by scintigraphy in six consecutive patients with biopsy-proved lung cancer. All had characteristic bone and joint pain unresponsive to a variety of analgesics. Treatment with indomethacin gave dramatic relief of pain within 72 hours in all six. Consideration should be given to instituting a controlled trial to establish the efficacy of indomethacin for the treatment of HPO. ImagesFigure 1. PMID:3993010

  2. Hypertrophic Cardiomyopathy After a Single Dose of Dexamethasone in a Preterm Infant.

    PubMed

    Kale, Yusuf; Aydemir, Ozge; Ceylan, Ozben; Bas, Ahmet Yagmur; Demirel, Nihal

    2015-08-01

    Dexamethasone is widely used in preterm infants with severe pulmonary disease. Hypertrophic cardiomyopathy (HCM) is a transient side effect observed after multiple doses of dexamethasone. We report a preterm infant with myocardial hypertrophy after a single dose of dexamethasone (0.5 mg/kg) used to treat laryngeal edema secondary to prolonged intubation. A benign course was observed without left ventricular outflow tract obstruction and with recovery within 4 weeks. Myocardial effects of dexamethasone may be independent of dose and duration of treatment. The risk/benefit ratio must be carefully considered before using even a single dose of dexamethasone in preterm infants.

  3. Hypertrophic Cardiomyopathy due to Mitochondrial Disease: Prenatal Diagnosis, Management, and Outcome

    PubMed Central

    García-Díaz, Lutgardo; Coserria, Félix; Antiñolo, Guillermo

    2013-01-01

    A case of prenatally diagnosed fetal hypertrophic cardiomyopathy is reported. The mother was referred to our department at 37 weeks' gestation because of suspected congenital heart disease. Prenatal echocardiography showed biventricular hypertrophy and pericardial effusion, without additional abnormalities. Postnatal echocardiography confirmed prenatal diagnosis. Neonatal EKG showed biventricular hypertrophy and Wolff-Parkinson-White syndrome. Skeletal muscle biopsy was consistent with mitochondrial oxidative phosphorylation defect involving a combined defect of respiratory complexes I and IV. Echocardiographic followup during the first year of life showed progressive regression of hypertrophy and evolution to left ventricular myocardial noncompaction. PMID:23346437

  4. Evolutionary change mimicking apical hypertrophic cardiomyopathy in a patient with takotsubo cardiomyopathy.

    PubMed

    Hwang, Hui-Jeong; Lee, Hyae-Min; Yang, In-Ho; Kim, Dong-Hee; Byun, Jong-Kyu; Sohn, Il Suk

    2014-11-01

    In this report, we introduce a case of thickening of the involved left ventricular apical segment on echocardiography and deep T-wave inversions in precordial leads on electrocardiography transiently seen in the course of recovery from biventricular takotsubo cardiomyopathy, mimicking apical hypertrophic cardiomyopathy. This result suggests that the echocardiographic finding of transient myocardial edema can be identified by cardiac magnetic resonance imaging in takotsubo cardiomyopathy. Additionally, it persisted a few weeks after full functional recovery. We believe that this case will contribute in part toward clarifying the pathophysiology of takotsubo cardiomyopathy.

  5. Hypertrophic Pachymeningitis as an Early Manifestation of Relapsing Polychondritis: Case Report and Review of the Literature

    PubMed Central

    Ushiyama, Satoru; Kinoshita, Tomomi; Shimojima, Yasuhiro; Ohashi, Nobuhiko; Kishida, Dai; Miyazaki, Daigo; Nakamura, Katsuya; Sekijima, Yoshiki; Ikeda, Shu-ichi

    2016-01-01

    Neurological involvement in relapsing polychondritis (RP) is relatively rare. We describe the case of an 80-year-old man who presented with hypertrophic pachymeningitis (HP) together with arthritis as the first manifestation of RP. Auricular chondritis, which subsequently determined the diagnosis of RP, occurred a few weeks after the detection of HP. The neurological symptoms, as well as arthritis, were promptly improved by treatment with corticosteroids. It is generally difficult to diagnose RP in the absence of typical cartilaginous involvement; however, the present case suggests that HP may occur as an early clinical manifestation of RP. PMID:27920712

  6. Long-Term Survival Following Cardiac Arrest Without Implantable Defibrillator Protection in a Hypertrophic Cardiomyopathy Patient

    PubMed Central

    Cetin, Mustafa; Ucar, Ozgul; Canbay, Alper; Cetin, Zehra Guven; Cicekcioglu, Hulya; Diker, Erdem

    2011-01-01

    Hypertrophic cardiomyopathy (HCM) is the most common cause of sudden cardiac death in young people. Implantable cardioverter defibrillator (ICD) is the optimal therapy in patients with HCM, both for primary or secondary prevention of sudden death. Left ventricular systolic function in HCM is usually normal. However, in few patients, HCM has been reported to progress to a state that is characterized by left ventricular dilation and systolic dysfunction, resembling dilated cardiomyopathy (DCM). Although arrhythmias are common in HCM, advanced or complete atrioventricular block (AV) is very rare. This case report describes a HCM patient who progressed to DCM with advanced AV block and survived 31 years following cardiac arrest without ICD protection.

  7. Successful surgical optic nerve decompression in a patient with hypertrophic pachymeningitis due to granulomatous polyangiitis

    PubMed Central

    de Hoog, Joeri; Volovici, Victor; Dammers, Ruben

    2015-01-01

    A 57-year-old woman presented with subacute vision loss of first the left, and later the right eye. She was diagnosed with granulomatous polyangiitis with hypertrophic pachymeningitis and optic nerve compression. Her visual acuity could not be permanently restored with immune suppressants alone, so a surgical decompression of the right optic nerve, via a modified cranio-orbitozygomatic pretemporal approach, was performed. Her right eye regained 20/20 vision and has remained stable during 8 months of follow-up. PMID:25612758

  8. Visualization of myocardial perfusion after percutaneous myocardial septal ablation for hypertrophic cardiomyopathy using superharmonic imaging.

    PubMed

    Ten Cate, Folkert J; Bouakaz, Ayache; Krenning, Boudewijn; Vletter, Wim; de Jong, Nico

    2003-04-01

    Harmonic imaging is used for detection of ultrasound contrast agents in myocardial perfusion studies. However, harmonic imaging has limitations because of the presence of tissue harmonics, which results in less specificity and sensitivity, thus, lower contrast-to-tissue ratio. We describe a clinical example using superharmonic imaging. This technique detects the third, fourth, and fifth harmonics. These harmonics are not created in tissue, resulting, hence, in a high contrast-to-tissue ratio. After myocardial alcohol ablation for hypertrophic cardiomyopathy areas of nontreated and treated myocardium, normal and low flow could be visualized with superharmonic imaging.

  9. Cardiac Autonomic Dysfunction in Patients With Infantile Spasm and the Effect of Adrenocorticotropic Hormone Treatment.

    PubMed

    Gencpinar, Pinar; Kocabas, Abdullah; Duman, Özgür; Dündar, Nihal Olgaç; Haspolat, Senay; Kardelen, Fırat

    2016-02-01

    Infantile spasm is an age-dependent epileptic-encephalopathy syndrome. Cardiac autonomic function is frequently altered in epilepsy. In this study, we examined heart rate variability in patients with infantile spasm before and after treatment. Nineteen patients with infantile spasm and 13 healthy comparisons were enrolled in the study. Cardiac rhythm was recorded with a Holter device for 24 hours before adrenocorticotropic hormone (ACTH) (Synacthen depot) and B6 vitamin administration and 1 month after treatment. Heart rate variability analysis found lower heart rate variability parameters in patients with infantile spasm at the onset of the syndrome, prior to treatment with ACTH. The time domain parameters of heart rate variability values showed a statistically significant increase following ACTH treatment. Our data suggest that patients with infantile spasm exhibit lower heart rate variability parameters, and the treatment of spasms with ACTH and B6 together diminished the autonomic dysfunction in our cohort.

  10. Phytoplankton biodiversity changes in a shallow tropical reservoir during the hypertrophication process.

    PubMed

    Crossetti, L O; Bicudo, D C; Bicudo, C E M; Bini, L M

    2008-11-01

    Study aimed at evaluating phytoplankton biodiversity changes in a shallow tropical reservoir during its hypertrophication process. Samplings were carried out monthly during 8 consecutive years (1997-2004) in 5 depths. Conspicuous limnological changes in the reservoir derived from the presence and/or removal of the water hyacinth, characterized 3 different phases. Over the time series, reservoir changed from a typical polymictic eutrophic system to hypertrophic one, leading to a reduction of approximately 70 species (average 37%). Chlorophyceae accounted for the highest species richness (46%) among all algal classes and strictly followed total species richness variation. Internal feedback mechanisms intensification over phase III clearly promoted the sharp decrease in biodiversity. Highest decreases, mainly during springs, occurred simultaneously to the highest Cyanobacteria blooms. Increased turbidity due to heavy phytoplankton blooms suppressed all other algal groups, so that at the end of the present study even Cyanobacteria species richness decreased. Total dissolved phosphorous was included in most of the best selected models used to analyze the temporal patterns in species richness loss. Present data show that biodiversity loss following trophic change was not a single dimension of a single factor but, rather, a template of factors (e.g. light, stability) co-varying in consequence of the larger levels of biomass supported in the reservoir.

  11. β-catenin activity in late hypertrophic chondrocytes locally orchestrates osteoblastogenesis and osteoclastogenesis

    PubMed Central

    Houben, Astrid; Weissenböck, Martina; Graf, Julian; Teufel, Stefan; von der Mark, Klaus

    2016-01-01

    Trabecular bone formation is the last step in endochondral ossification. This remodeling process of cartilage into bone involves blood vessel invasion and removal of hypertrophic chondrocytes (HTCs) by chondroclasts and osteoclasts. Periosteal- and chondrocyte-derived osteoprogenitors utilize the leftover mineralized HTC matrix as a scaffold for primary spongiosa formation. Here, we show genetically that β-catenin (encoded by Ctnnb1), a key component of the canonical Wnt pathway, orchestrates this remodeling process at multiple levels. Conditional inactivation or stabilization of β-catenin in HTCs by a Col10a1-Cre line locally modulated osteoclastogenesis by altering the Rankl:Opg ratio in HTCs. Lack of β-catenin resulted in a severe decrease of trabecular bone in the embryonic long bones. Gain of β-catenin activity interfered with removal of late HTCs and bone marrow formation, leading to a continuous mineralized hypertrophic core in the embryo and resulting in an osteopetrotic-like phenotype in adult mice. Furthermore, β-catenin activity in late HTCs is required for chondrocyte-derived osteoblastogenesis at the chondro-osseous junction. The latter contributes to the severe trabecular bone phenotype in mutants lacking β-catenin activity in HTCs. PMID:27621061

  12. Potential mechanisms for a role of metabolic stress in hypertrophic adaptations to resistance training.

    PubMed

    Schoenfeld, Brad J

    2013-03-01

    It is well established that regimented resistance training can promote increases in muscle hypertrophy. The prevailing body of research indicates that mechanical stress is the primary impetus for this adaptive response and studies show that mechanical stress alone can initiate anabolic signalling. Given the dominant role of mechanical stress in muscle growth, the question arises as to whether other factors may enhance the post-exercise hypertrophic response. Several researchers have proposed that exercise-induced metabolic stress may in fact confer such an anabolic effect and some have even suggested that metabolite accumulation may be more important than high force development in optimizing muscle growth. Metabolic stress pursuant to traditional resistance training manifests as a result of exercise that relies on anaerobic glycolysis for adenosine triphosphate production. This, in turn, causes the subsequent accumulation of metabolites, particularly lactate and H(+). Acute muscle hypoxia associated with such training methods may further heighten metabolic buildup. Therefore, the purpose of this paper will be to review the emerging body of research suggesting a role for exercise-induced metabolic stress in maximizing muscle development and present insights as to the potential mechanisms by which these hypertrophic adaptations may occur. These mechanisms include increased fibre recruitment, elevated systemic hormonal production, alterations in local myokines, heightened production of reactive oxygen species and cell swelling. Recommendations are provided for potential areas of future research on the subject.

  13. "Sawfish" systolic narrowing of the left anterior descending coronary artery: an angiographic sign of hypertrophic cardiomyopathy.

    PubMed

    Brugada, P; Bär, F W; de Zwaan, C; Roy, D; Green, M; Wellens, H J

    1982-10-01

    The morphologic characteristics at coronary arteriography of systolic narrowing of the left anterior descending coronary artery (LAD) were evaluated in 14 patients. Six patients had systolic narrowing of the LAD not associated with other cardiac abnormalities (group A) and eight patients had systolic narrowing of the LAD associated with hypertrophic cardiomyopathy (group B). Patients in group A showed a smooth and progressive constriction of the vessel up to the point of maximal stenosis, giving it a "rat-tail" appearance. There was no systolic narrowing of septal branches or of other epicardial vessels in this group. In patients of group B, systolic narrowing of the LAD had a "saw-fish" appearance. Seven patients had systolic narrowing of the septal branches, and five had systolic narrowing of other epicardial vessels. These data indicate that systolic narrowing of the LAD in patients with hypertrophic cardiomyopathy differs angiographically from systolic narrowing due to an intramural course of a part of the vessel (as in group A patients). We postulate that in patients with hypertropic cardiomyopathy, fiber hypertrophy and disarray in the vicinity of the coronary vessels is responsible for the morphology and the widespread distribution of systolic narrowing.

  14. Establishing a Reproducible Hypertrophic Scar following Thermal Injury: A Porcine Model

    PubMed Central

    Rapp, Scott J.; Rumberg, Aaron; Visscher, Marty; Billmire, David A.; Schwentker, Ann S.

    2015-01-01

    Background: Our complete understanding of hypertrophic scarring is still deficient, as portrayed by the poor clinical outcomes when treating them. To address the need for alternative treatment strategies, we assess the swine animal burn model as an initial approach for immature scar evaluation and therapeutic application. Methods: Thermal contact burns were created on the dorsum of 3 domestic swine with the use of a branding iron at 170°F for 20 seconds. Deep partial-thickness burns were cared for with absorptive dressings over 10 weeks and wounds evaluated with laser and negative pressure transduction, histology, photographic analysis, and RNA isolation. Results: Overall average stiffness (mm Hg/mm) increased and elasticity (mm) decreased in the scars from the initial burn injury to 8 weeks when compared with normal skin (P < 0.01). Scars were thicker, more erythematous, and uniform in the caudal dorsum. The percent change of erythema in wounds increased from weeks 6 to 10. Histology demonstrated loss of dermal papillae, increased myofibroblast presence, vertically oriented vessels, epidermal and dermal hypercellularity, and parallel-layered collagen deposition. Immature scars remained elevated at 10 weeks, and minimal RNA was able to be isolated from the tissue. Conclusions: Deep partial-thickness thermal injury to the back of domestic swine produces an immature hypertrophic scar by 10 weeks following burn with thickness appearing to coincide with the location along the dorsal axis. With minimal pig to pig variation, we describe our technique to provide a testable immature scar model. PMID:25750848

  15. Hypertrophic osteopathy associated with mycotic pneumonia in two juvenile elk (Cervus elaphus).

    PubMed

    Ferguson, Nicole M; Lévy, Michel; Ramos-Vara, José A; Baird, Debra K; Wu, Ching Ching

    2008-11-01

    Two yearling bull elk (cervus claphus) from the same farm developed anorexia, weight loss, and lameness. On physical examination, both elk were thin and showed diffuse swelling of all lower limbs. Radiographs of the lower limbs showed periosteal thickening of the distal extremities, consistent with hypertrophic osteopathy. Thoracic radiographs indicated the presence of pulmonary nodules. Cytologic evaluations of tracheal washes on both elk were consistent with inflammation. Acid-fast stains on both samples were negative. Because of the poor prognosis, both elk were euthanized. At necropsy, the carpal, metacarpal, tarsal, and metatarsal bones, as well as the radius, ulna, and tibia had thickening of cortical bone. There were multiple encapsulated nodules throughout the lungs, lymph nodes, and kidney, and smaller nodules in the myocardium. On microscopic examination, these nodules contained myriads of hyphae, and immunohistochemistry for Aspergillus sp. was strongly positive. Aspergillus fumigatus was isolated from affected tissue in 1 elk. Necropsy findings in both elk were consistent with disseminated fungal granulomas and periosteal hyperostosis. This case presents the first description of hypertrophic osteopathy in elk. The source of infection was undetermined, but inhalation of spores from contaminated feed or bedding was suspected.

  16. Three-dimensional alignment of the aggregated myocytes in the normal and hypertrophic murine heart.

    PubMed

    Schmitt, Boris; Fedarava, Katsiaryna; Falkenberg, Jan; Rothaus, Kai; Bodhey, Narendra K; Reischauer, Carolin; Kozerke, Sebastian; Schnackenburg, Bernhard; Westermann, Dirk; Lunkenheimer, Paul P; Anderson, Robert H; Berger, Felix; Kuehne, Titus

    2009-09-01

    Several observations suggest that the transmission of myocardial forces is influenced in part by the spatial arrangement of the myocytes aggregated together within ventricular mass. Our aim was to assess, using diffusion tensor magnetic resonance imaging (DT-MRI), any differences in the three-dimensional arrangement of these myocytes in the normal heart compared with the hypertrophic murine myocardium. We induced ventricular hypertrophy in seven mice by infusion of angiotensin II through a subcutaneous pump, with seven other mice serving as controls. DT-MRI of explanted hearts was performed at 3.0 Tesla. We used the primary eigenvector in each voxel to determine the three-dimensional orientation of aggregated myocytes in respect to their helical angles and their transmural courses (intruding angles). Compared with controls, the hypertrophic hearts showed significant increases in myocardial mass and the outer radius of the left ventricular chamber (P < 0.05). In both groups, a significant change was noted from positive intruding angles at the base to negative angles at the ventricular apex (P < 0.01). Compared with controls, the hypertrophied hearts had significantly larger intruding angles of the aggregated myocytes, notably in the apical and basal slices (P < 0.001). In both groups, the helical angles were greatest in midventricular sections, albeit with significantly smaller angles in the mice with hypertrophied myocardium (P < 0.01). The use of DT-MRI revealed significant differences in helix and intruding angles of the myocytes in the mice with hypertrophied myocardium.

  17. Evidence of hypertrophic osteoarthropathy in human skeletal remains from pre-Hispanic Mesoamerica.

    PubMed

    Martínez-Lavín, M; Mansilla, J; Pineda, C; Pijoán, C; Ochoa, P

    1994-02-01

    Hypertrophic osteoarthropathy is one of the earliest recognized disease entities in the history of medicine. It has a peculiar periosteal proliferation distinctive from other bone diseases. In its advanced stage, it leaves an indelible mark on the skeleton. It has been recently shown that digital clubbing is accompanied by a bone remodeling process of the underlying phalanges. Thus, theoretically, this entity can be recognized in ancient human skeletal remains. We studied part of the collection of skeletal remains from pre-Hispanic Mesoamerica preserved at the National Museum of Anthropology of Mexico City. We examined 1000 specimens and found 2 skeletons with widespread, bilateral, symmetric periosteal proliferation of the tubular bones in addition to the bone remodeling changes of the distal phalanges. One of the specimens was from the Formative period (2000 B.C. to 100 A.D.). We conclude that hypertrophic osteoarthropathy can be recognized in ancient human skeletal remains and that this disease was present in Mesoamerica near the time of the original description of clubbing by Hippocrates about 2500 years ago.

  18. Comparison between Stromal Vascular Fraction and Adipose Mesenchymal Stem Cells in Remodeling Hypertrophic Scars

    PubMed Central

    Maumus, Marie; Toupet, Karine; Frouin, Eric; Rigau, Valérie; Vozenin, Marie-Catherine; Magalon, Guy; Jorgensen, Christian; Noël, Danièle

    2016-01-01

    Hypertrophic scars (HTS) are characterized by excessive amount of collagen deposition and principally occur following burn injuries or surgeries. In absence of effective treatments, the use of mesenchymal stem/stromal cells, which have been shown to attenuate fibrosis in various applications, seems of interest. The objectives of the present study were therefore to evaluate the effect of human adipose tissue-derived mesenchymal stem cells (hASC) on a pre-existing HTS in a humanized skin graft model in Nude mice and to compare the efficacy of hASCs versus stromal vascular fraction (SVF). We found that injection of SVF or hASCs resulted in an attenuation of HTS as noticed after clinical evaluation of skin thickness, which was associated with lower total collagen contents in the skins of treated mice and a reduced dermis thickness after histological analysis. Although both SVF and hASCs were able to significantly reduce the clinical and histological parameters of HTS, hASCs appeared to be more efficient than SVF. The therapeutic effect of hASCs was attributed to higher expression of TGFβ3 and HGF, which are important anti-fibrotic mediators, and to higher levels of MMP-2 and MMP-2/TIMP-2 ratio, which reflect the remodelling activity responsible for fibrosis resorption. These results demonstrated the therapeutic potential of hASCs for clinical applications of hypertrophic scarring. PMID:27227960

  19. Color-coded Doppler imaging of systolic flow patterns in hypertrophic cardiomyopathy.

    PubMed

    Tencate, F J; Mayala, A P; Vletter, W B; Roelandt, J

    1985-01-01

    We studied 11 patients with hypertrophic cardiomyopathy by color Doppler echocardiography (Group I: 6 patients with outflow obstruction, and Group II: 5 patients without outflow obstruction) to assess systolic structure and function as observed by cross-sectional echocardiography in relation to the flow dynamics. The structure and function included systolic anterior motion of mitral valve (SAM), midsystolic aortic valve closure (AoC), systolic cavity obliteration and the presence and timing of mitral incompetence. Their occurrence and timing was related to presence of aortic systolic flow and presence of turbulence. While all patients in Group I had SAM and turbulence, none of the patients in Group II had SAM nor turbulence. Early mitral incompetence appearing before SAM and turbulence, occurred in all patients of Group I and in none of Group II. Midsystolic aortic valve closure was only present in Group I and blood flow was unilaterally directed so that only 60% of aortic cross-sectional area showed blood flow. We conclude that mitral incompetence in hypertrophic cardiomyopathy in early systole is common when outflow gradient is present and is independent of mitral incompetence of mid- and late systole. During SAM, turbulence in the subaortic area and mid and late mitral incompetence occurred simultaneously. The midsystolic aortic valve closure was related to the unilaterally directed blood flow through the aortic cross-sectional area.

  20. Supraventricular tachycardia in a patient with Lown-Ganong-Levine syndrome associated with apical hypertrophic cardiomyopathy.

    PubMed

    Hayano, M; Imamura, Y; Tsuruta, M; Inoue, J; Nakashima, H; Fukuyama, K; Eguchi, Y; Tsuji, S; Matsuo, S; Yano, K

    1988-03-01

    Electrophysiologic study of a 55-year-old patient with Lown-Ganong-Levine syndrome associated with apical hypertrophic cardiomyopathy is reported. The patient had a history of recurrent attacks of tachyarrhythmia and his electrocardiogram showed a short P-R interval (0.10 sec) with narrow QRS complex and left ventricular hypertrophy with giant negative T waves. His cineangiogram showed severe apical hypertrophy. An electrophysiologic study was performed. The results of programmed atrial pacing show the existence of the dual A-V nodal pathways. The A-H interval at rapid atrial pacing increased maximally by 103 msec. Atrial stimulation could depolarize parts of the atrium without altering the supraventricular tachycardia. These findings suggested that preferential rapidly conducting A-V nodal and intranodal reentry are the responsible mechanisms in this reciprocating tachycardia. We conclude that the short P-R interval was due to intranodal reentry through the dual A-V nodal pathways. To our knowledge, a case of Lown-Ganong-Levine syndrome with apical hypertrophic cardiomyopathy has not been previously described in the literature.

  1. Virtual Cardiac Surgery Using CFD: Application to Septal Myectomy in Obstructive Hypertrophic Cardiomyopathy

    NASA Astrophysics Data System (ADS)

    Vedula, Vijay; Mittal, Rajat; Abraham, Theodore

    2011-11-01

    Obstructive hypertrophic cardiomyopathy (HOCM) is characterized by ventricular wall thickening, diastolic dysfunction, and dynamic outflow tract obstruction, all of which strongly influence the vortex dynamics and pressure distribution in the left ventricle (LV). Severe cases of HCM are usually managed through septal myectomy where the surgeon resects the hypertrophic mass. Surgeons currently try to remove as much tissue as possible in order to optimize the post surgical result. However, excessive debulking increases the chance of ventricular septal defects, bundle branch block or complete heart block, and aneurysmal septal thinning. On the other hand, insufficient tissue removal also leads to unsatisfactory outcomes in terms of reduction of outflow tract pressure gradient. Knowing how much muscle to remove and where to remove it from could reduce the likelihood of complications and suboptimal outcomes. In the present study, we employ an immersed boundary solver to model the effect of septal myectomy for ventricles with HOCM and demonstrate the potential of such an approach for surgical planning. Computational resources were provided by the National Institute of Computational Science under Tergrid grant number TG-CTS100002.

  2. Visualization of living terminal hypertrophic chondrocytes of growth plate cartilage in situ by differential interference contrast microscopy and time-lapse cinematography.

    PubMed

    Farnum, C E; Turgai, J; Wilsman, N J

    1990-09-01

    The functional unit within the growth plate consists of a column of chondrocytes that passes through a sequence of phases including proliferation, hypertrophy, and death. It is important to our understanding of the biology of the growth plate to determine if distal hypertrophic cells are viable, highly differentiated cells with the potential of actively controlling terminal events of endochondral ossification prior to their death at the chondro-osseous junction. This study for the first time reports on the visualization of living hypertrophic chondrocytes in situ, including the terminal hypertrophic chondrocyte. Chondrocytes in growth plate explants are visualized using rectified differential interference contrast microscopy. We record and measure, using time-lapse cinematography, the rate of movement of subcellular organelles at the limit of resolution of this light microscopy system. Control experiments to assess viability of hypertrophic chondrocytes include coincubating organ cultures with the intravital dye fluorescein diacetate to assess the integrity of the plasma membrane and cytoplasmic esterases. In this system, all hypertrophic chondrocytes, including the very terminal chondrocyte, exist as rounded, fully hydrated cells. By the criteria of intravital dye staining and organelle movement, distal hypertrophic chondrocytes are identical to chondrocytes in the proliferative and early hypertrophic cell zones.

  3. Hypertrophic chondrocytes in the rabbit growth plate can proliferate and differentiate into osteogenic cells when capillary invasion is interposed by a membrane filter.

    PubMed

    Enishi, Tetsuya; Yukata, Kiminori; Takahashi, Mitsuhiko; Sato, Ryosuke; Sairyo, Koichi; Yasui, Natsuo

    2014-01-01

    The fate of hypertrophic chondrocytes during endochondral ossification remains controversial. It has long been thought that the calcified cartilage is invaded by blood vessels and that new bone is deposited on the surface of the eroded cartilage by newly arrived cells. The present study was designed to determine whether hypertrophic chondrocytes were destined to die or could survive to participate in new bone formation. In a rabbit experiment, a membrane filter with a pore size of 1 µm was inserted in the middle of the hypertrophic zone of the distal growth plate of ulna. In 33 of 37 animals, vascular invasion was successfully interposed by the membrane filter. During 8 days, the cartilage growth plate was enlarged, making the thickness 3-fold greater than that of the nonoperated control side. Histological examination demonstrated that the hypertrophic zone was exclusively elongated. At the terminal end of the growth plate, hypertrophic chondrocytes extruded from their territorial matrix into the open cavity on the surface of the membrane filter. The progenies of hypertrophic chondrocytes (PHCs) were PCNA positive and caspase-3 negative. In situ hybridization studies demonstrated that PHCs did not express cartilage matrix proteins anymore but expressed bone matrix proteins. Immunohistochemical studies also demonstrated that the new matrix produced by PHCs contained type I collagen, osteonectin, and osteocalcin. Based on these results, we concluded that hypertrophic chondrocytes switched into bone-forming cells after vascular invasion was interposed in the normal growth plate.

  4. Raf Kinases Are Essential for Phosphate Induction of ERK1/2 Phosphorylation in Hypertrophic Chondrocytes and Normal Endochondral Bone Development.

    PubMed

    Papaioannou, Garyfallia; Petit, Elizabeth T; Liu, Eva S; Baccarini, Manuela; Pritchard, Catrin; Demay, Marie B

    2017-02-24

    Hypophosphatemia causes rickets by impairing hypertrophic chondrocyte apoptosis. Phosphate induction of MEK1/2-ERK1/2 phosphorylation in hypertrophic chondrocytes is required for phosphate-mediated apoptosis and growth plate maturation. MEK1/2 can be activated by numerous molecules including Raf isoforms. A- and B-Raf ablation in chondrocytes does not alter skeletal development, whereas ablation of C-Raf decreases hypertrophic chondrocyte apoptosis and impairs vascularization of the growth plate. However, ablation of C-Raf does not impair phosphate-induced ERK1/2 phosphorylation in vitro, but leads to rickets by decreasing VEGF protein stability. To determine whether Raf isoforms are required for phosphate-induced hypertrophic chondrocyte apoptosis, mice lacking all three Raf isoforms in chondrocytes were generated. Raf deletion caused neonatal death and a significant expansion of the hypertrophic chondrocyte layer of the growth plate, accompanied by decreased cleaved caspase-9. This was associated with decreased phospho-ERK1/2 immunoreactivity in the hypertrophic chondrocyte layer and impaired vascular invasion. These data further demonstrated that Raf kinases are required for phosphate-induced ERK1/2 phosphorylation in cultured hypertrophic chondrocytes and perform essential, but partially redundant roles in growth plate maturation.

  5. Hypertrophic Chondrocytes in the Rabbit Growth Plate Can Proliferate and Differentiate into Osteogenic Cells when Capillary Invasion Is Interposed by a Membrane Filter

    PubMed Central

    Enishi, Tetsuya; Yukata, Kiminori; Takahashi, Mitsuhiko; Sato, Ryosuke; Sairyo, Koichi; Yasui, Natsuo

    2014-01-01

    The fate of hypertrophic chondrocytes during endochondral ossification remains controversial. It has long been thought that the calcified cartilage is invaded by blood vessels and that new bone is deposited on the surface of the eroded cartilage by newly arrived cells. The present study was designed to determine whether hypertrophic chondrocytes were destined to die or could survive to participate in new bone formation. In a rabbit experiment, a membrane filter with a pore size of 1 µm was inserted in the middle of the hypertrophic zone of the distal growth plate of ulna. In 33 of 37 animals, vascular invasion was successfully interposed by the membrane filter. During 8 days, the cartilage growth plate was enlarged, making the thickness 3-fold greater than that of the nonoperated control side. Histological examination demonstrated that the hypertrophic zone was exclusively elongated. At the terminal end of the growth plate, hypertrophic chondrocytes extruded from their territorial matrix into the open cavity on the surface of the membrane filter. The progenies of hypertrophic chondrocytes (PHCs) were PCNA positive and caspase-3 negative. In situ hybridization studies demonstrated that PHCs did not express cartilage matrix proteins anymore but expressed bone matrix proteins. Immunohistochemical studies also demonstrated that the new matrix produced by PHCs contained type I collagen, osteonectin, and osteocalcin. Based on these results, we concluded that hypertrophic chondrocytes switched into bone-forming cells after vascular invasion was interposed in the normal growth plate. PMID:25121501

  6. Relationship of alignment and tibial cortical coverage to hypertrophic bone formation in Salto Talaris® total ankle arthroplasty.

    PubMed

    King, Christy M; Schuberth, John M; Christensen, Jeffrey C; Swanstrom, Katie M

    2013-01-01

    A retrospective analysis of 107 Salto Talaris(®) total ankle replacements was performed to determine the effect of alignment and tibial cortical coverage on the formation of heterotopic bone. The radiographic parameters were studied for at least 18 months to detect any changes over time. The angle of insertion of the implant was most often in varus and with a positive anterior slope. A slight increase was seen in the slope over time (p < .0001) but was not clinically relevant. The mean percentage of cortical coverage of the tibial component was 89%, and only 7 patients had complete coverage of both the anterior and the posterior cortices. The percentage of patients who had hypertrophic bone growth increased over time (p < .0001). As the slope of the implant increased, there was a negative correlation with the degree of tibial coverage (p = .007). There was also an increase in the extent of hypertrophic bone as the tibial coverage decreased. None of the patients had symptoms that required an additional surgical procedure. The results of the present study indicate a high incidence of hypertrophic bone proliferation when the dimensions of the tibial component do not match the anteroposterior depth of the tibia at the plane of resection. Despite the high occurrence rate, the clinical relevance of hypertrophic bone is obscure.

  7. Snapping elbow caused by hypertrophic synovial plica in the radiohumeral joint: a report of three cases and review of literature.

    PubMed

    Steinert, Andre F; Goebel, Sascha; Rucker, Alexander; Barthel, Thomas

    2010-03-01

    The snapping elbow caused by hypertrophic synovial radiohumeral plica is a rare form of lateral elbow impingement. In this article we report on hypertrophic radiohumeral synovial folds in three male patients, aged 54, 65 and 27 years. All three patients suffered isolated lateral elbow pain, painful snapping and unsuccessful conservative treatment over at least 5 months (range 5-9 months, mean 7.7 months) prior to surgical treatment. None of the patients had lateral epicondylitis, instability, osteochondrosis dissecans, loose bodies, arthritis or neurological disorders. Upon clinical examination the range of motion in the respective painful elbows was found to be normal in all three cases, but a painful snapping occurred between 80 degrees and 100 degrees of flexion with the forearm in pronation. While there were no pathologic findings in standard radiographs, magnetic resonance imaging (MRI) revealed hypertrophic synovial plicae in the radiohumeral joints associated with effusion in each of the diseased elbows. Arthroscopic examinations confirmed the presence of a hypertrophic synovial plica in all three radiocapitellar joints, and revealed a transient interposition and compression of the folds in the articulation from extension until 90 degrees -100 degrees elbow flexion, with replacement beyond 90 degrees elbow flexion with a visible jump. Surgical management in all three cases comprised arthroscopic diagnosis confirmation and removal of the synovial plicae, leading to excellent outcomes at 6-12 months follow-up.

  8. Differences in collagen architecture between keloid, hypertrophic scar, normotrophic scar, and normal skin: An objective histopathological analysis.

    PubMed

    Verhaegen, Pauline D H M; van Zuijlen, Paul P M; Pennings, Noor M; van Marle, Jan; Niessen, Frank B; van der Horst, Chantal M A M; Middelkoop, Esther

    2009-01-01

    Normotrophic, hypertrophic, and keloidal scars are different types of scar formation, which all need a different approach in treatment. Therefore, it is important to differentiate between these types of scar, not only clinically but also histopathologically. Differences were explored for collagen orientation and bundle thickness in 25 normal skin, 57 normotrophic scar, 56 hypertrophic scar, and 56 keloid biopsies, which were selected on clinical diagnosis. Image analysis was performed by fast fourier transformation. The calculated collagen orientation index ranged from 0 (random orientation) to 1 (parallel orientation). The bundle distance was calculated by the average distance between the centers of the collagen bundles. The results showed that compared with all three types of scars, the collagen orientation index was significantly lower in normal skin, which indicates that scars are organized in a more parallel manner. No differences were found between the different scars. Secondly, compared with normal skin, normotrophic scar, and hypertrophic scar, the bundle distance was significantly larger in keloidal scar, which suggests that thicker collagen bundles are present in keloidal scar. This first extensive histological study showed objective differences between normal skin, normotrophic, hypertrophic, and keloidal scar.

  9. Asfotase Alfa Treatment Improves Survival for Perinatal and Infantile Hypophosphatasia

    PubMed Central

    Rockman-Greenberg, Cheryl; Ozono, Keiichi; Riese, Richard; Moseley, Scott; Melian, Agustin; Thompson, David D.; Bishop, Nicholas; Hofmann, Christine

    2016-01-01

    Context: Hypophosphatasia (HPP) is an inborn error of metabolism that, in its most severe perinatal and infantile forms, results in 50–100% mortality, typically from respiratory complications. Objectives: Our objective was to better understand the effect of treatment with asfotase alfa, a first-in-class enzyme replacement therapy, on mortality in neonates and infants with severe HPP. Design/Setting: Data from patients with the perinatal and infantile forms of HPP in two ongoing, multicenter, multinational, open-label, phase 2 interventional studies of asfotase alfa treatment were compared with data from similar patients from a retrospective natural history study. Patients: Thirty-seven treated patients (median treatment duration, 2.7 years) and 48 historical controls of similar chronological age and HPP characteristics. Interventions: Treated patients received asfotase alfa as sc injections either 1 mg/kg six times per week or 2 mg/kg thrice weekly. Main Outcome Measures: Survival, skeletal health quantified radiographically on treatment, and ventilatory status were the main outcome measures for this study. Results: Asfotase alfa was associated with improved survival in treated patients vs historical controls: 95% vs 42% at age 1 year and 84% vs 27% at age 5 years, respectively (P < .0001, Kaplan-Meier log-rank test). Whereas 5% (1/20) of the historical controls who required ventilatory assistance survived, 76% (16/21) of the ventilated and treated patients survived, among whom 75% (12/16) were weaned from ventilatory support. This better respiratory outcome accompanied radiographic improvements in skeletal mineralization and health. Conclusions: Asfotase alfa mineralizes the HPP skeleton, including the ribs, and improves respiratory function and survival in life-threatening perinatal and infantile HPP. PMID:26529632

  10. Eruption hematoma as a possible oral sign of infantile scurvy.

    PubMed

    Adewumi, Abi O; Ashoor, Isa F; Soares, Flavio M; Guelmann, Marcio; Novak, Donald A

    2010-01-01

    Scurvy, vitamin C deficiency, is uncommon in industrialized societies today. Although supplementation of food with vitamin C has diminished its incidence, scurvy continues to occur in specific economically and nutritionally disadvantaged populations. The purpose of this report was to describe the case of infantile scurvy in a 20-month-old male with multisystem involvement including significant oral manifestations. Following an extensive initial evaluation, the multidisciplinary approach to diagnosis and management is discussed. This case demonstrates the need for heightened awareness of severe and multiplefood allergies in children and highlights disease conditions caused by nutritional deficiencies in this population.

  11. Infantile hydrocephalus: a review of epidemiology, classification and causes.

    PubMed

    Tully, Hannah M; Dobyns, William B

    2014-08-01

    Hydrocephalus is a common but complex condition caused by physical or functional obstruction of CSF flow that leads to progressive ventricular dilatation. Though hydrocephalus was recently estimated to affect 1.1 in 1000 infants, there have been few systematic assessments of the causes of hydrocephalus in this age group, which makes it a challenging condition to approach as a scientist or as a clinician. Here, we review contemporary literature on the epidemiology, classification and pathogenesis of infantile hydrocephalus. We describe the major environmental and genetic causes of hydrocephalus, with the goal of providing a framework to assess infants with hydrocephalus and guide future research.

  12. Clinical Characteristics and Treatment Options of Infantile Vascular Anomalies

    PubMed Central

    Yang, Bin; Li, Li; Zhang, Li-xin; Sun, Yu-juan; Ma, Lin

    2015-01-01

    Abstract To analyze the clinical characteristics and treatment outcomes of vascular anomalies, and determine which therapy is safe and effective. The data of vascular anomalies pediatric patients who arrived at Beijing children's Hospital from January 2001 to December 2014 were analyzed retrospectively, including the influence of gender, age, clinical manifestation, diagnosis, treatment options, and outcomes. As to infantile hemangiomas, the outcomes of different treatments and their adverse reactions were compared. As to spider angioma and cutaneous capillary malformation, the treatment effect of 595 nm pulsed dye laser (PDL) is analyzed. A total number of 6459 cases of vascular anomalies were reclassified according to the 2014 ISSVA classification system. Among them, the gender ratio is 1:1.69, head-and-neck involved is 53.3%, the onset age within the first month is 72.4%, the age of initial encounter that younger than 6 months is 60.1%. The most common anomalies were infantile hemangiomas (42.6%), congenital hemangiomas (14.1%), and capillary malformations (29.9%). In treating infantile hemangiomas, laser shows the lowest adverse reactions rate significantly. Propranolol shows a higher improvement rate than laser, glucocorticoids, glucocorticoids plus laser, and shows no significant difference with propranolol plus laser both in improvement rate and adverse reactions rate. The total improvement rate of 595 nm PDL is 89.8% in treating spider angioma and 46.7% in treating cutaneous capillary malformation. The improvement rate and excellent rate of laser in treating cutaneous capillary malformation are growing synchronously by increasing the treatment times, and shows no significant difference among different parts of lesion that located in a body. Vascular anomalies possess a female predominance, and are mostly occurred in faces. Definite diagnosis is very important before treatment. In treating infantile hemangioma, propranolol is recommended as the first

  13. Diffusion, Perfusion, and Histopathologic Characteristics of Desmoplastic Infantile Ganglioglioma

    PubMed Central

    Ho, Chang Y; Gener, Melissa; Bonnin, Jose; Kralik, Stephen F

    2016-01-01

    We present a case series of a rare tumor, the desmoplastic infantile ganglioglioma (DIG) with MRI diffusion and perfusion imaging quantification as well as histopathologic characterization. Four cases with pathologically-proven DIG had diffusion weighted imaging (DWI) and two of the four had dynamic susceptibility contrast imaging. All four tumors demonstrate DWI findings compatible with low-grade pediatric tumors. For the two cases with perfusion imaging, a higher relative cerebral blood volume was associated with higher proliferation index on histopathology for one of the cases. Our results are discussed in conjunction with a literature review. PMID:27761184

  14. Familial infantile cortical hyperostosis in a large Canadian family.

    PubMed Central

    Maclachlan, A. K.; Gerrard, J. W.; Houston, C. S.; Ives, E. J.

    1984-01-01

    Infantile cortical hyperostosis is a rare proliferative bone disease affecting infants under the age of 6 months. In 1961 a large family of French-Canadian origin in which 14 children in three generations were affected was described. Since then 20 new cases have been found in this family. This is the largest familial aggregation of this disease reported in the literature to date. On the basis of the findings in this pedigree, the familial form of the disease appears to be transmitted by a single autosomal dominant gene with incomplete penetrance and variable expressivity. Images Fig. 2 Fig. 3 PMID:6370402

  15. [Clinical guidelines for infantile-onset Pompe disease].

    PubMed

    Pascual-Pascual, S I; Nascimento, A; Fernandez-Llamazares, C M; Medrano-Lopez, C; Villalobos-Pinto, E; Martinez-Moreno, M; Ley, M; Manrique-Rodriguez, S; Blasco-Alonso, J

    2016-09-16

    Infantile-onset Pompe disease has a fatal prognosis in the short term unless it is diagnosed at an early stage and enzyme replacement therapy is not started as soon as possible. A group of specialists from different disciplines involved in this disease have reviewed the current scientific evidence and have drawn up an agreed series of recommendations on the diagnosis, treatment and follow-up of patients. We recommend establishing enzyme treatment in any patient with symptomatic Pompe disease with onset within the first year of life, with a clinical and enzymatic diagnosis, and once the CRIM (cross-reactive immunological material) status is known.

  16. Distinct reovirus-like agents associated with acute infantile gastroenteritis.

    PubMed Central

    Espejo, R T; Calderon, E; Gonzalez, N

    1977-01-01

    Human reovirus-like particles were found by electron microscopy in the stools of 25% of 71 infants and young children hospitalized with acute gastroenteritis in Mexico between December 1976 and April 1977. The virus was also identified by the electrophoresis patterns of its ribonucleic acid upon disruption of partially purified particles. This technique is as reliable as electron microscopy but less laborious, and could become a routine diagnostic procedure. The electrophoretic patterns of viral ribonucleic acid from different cases suggest that there are at least two different reovirus-like agents associated with infantile gastroenteritis. Images PMID:411805

  17. Unusual imaging presentation of infantile atypical Kawasaki disease.

    PubMed

    Kumar, Nishith; Mittal, Mahesh Kumar; Sinha, Mukul; Gupta, Arpita; Thukral, Brij Bhushan

    2016-01-01

    Kawasaki disease is a systemic medium vessel vasculitis of unknown etiology affecting children under 5 years of age. There are no specific diagnostic tests, and thus, the diagnosis of the disease is primarily made on the basis of clinical criteria. Unusual presentations of Kawasaki disease have been variably reported from different parts of the world. However, presentation of the disease in the form of peripheral thromboembolism and florid non-coronary aneurysms has rarely been described This report describes the imaging findings in infantile atypical Kawasaki disease with aneurysms of multiple medium-sized arteries, including coronary arteries, emphasizing the detection of clinically silent aneurysms in the disease.

  18. Functionally impaired, hypertrophic ECL cells accumulate vacuoles and lipofuscin bodies. An ultrastructural study of ECL cells isolated from hypergastrinemic rats.

    PubMed

    Zhao, C M; Bakke, I; Tostrup-Skogaker, N; Waldum, H L; Håkanson, R; Chen, D

    2001-03-01

    ECL cells in the oxyntic mucosa of stomach control gastric acid secretion by mobilizing histamine in response to gastrin. They respond to gastrin also with hypertrophy and hyperplasia. ECL cells exhibit functional impairment upon long-term gastrin stimulation. The impairment is manifested in a gradual decline of the activity of the histamine-forming enzyme per individual ECL cell and in a failure of gastrin to mobilize histamine. The mechanism behind this impairment is unknown. In the present study, rats were treated with the proton pump inhibitor pantoprazole for 45 days to induce sustained hypergastrinemia. The ECL cells were isolated from normogastrinemic and hypergastrinemic rats and size-separated from other mucosal cells by the elutriation technique. The total ECL cell number was twofold higher in hypergastrinemic rats than in normogastrinemic rats, and most of the cells appeared in elutriation fractions where large cells predominate. The ECL cells of the different fractions were analyzed by quantitative electron microscopy. Normal-sized ECL cells from hypergastrinemic rats displayed a reduced number of secretory vesicles (probably because of degranulation) compared with normal-sized ECL cells from normogastrinemic rats. Hypertrophic ECL cells from hypergastrinemic rats had an unchanged number of secretory vesicles, supporting the view that such cells fail to respond to gastrin with degranulation. Although both normal-sized and hypertrophic ECL cells from hypergastrinemic rats contained vacuoles, those in the hypertrophic ECL cells were larger and more numerous. In addition, hypertrophic ECL cells were found to contain numerous, prominent lipofuscin bodies which are the presumed end product of crinophagia. Conceivably therefore, large vacuoles and lipofuscin bodies cause functional impairment of the hypertrophic ECL cells.

  19. Cyclic GMP protein kinase activity is reduced in thyroxine-induced hypertrophic cardiac myocytes.

    PubMed

    Yan, Lin; Zhang, Qihang; Scholz, Peter M; Weiss, Harvey R

    2003-12-01

    1. We tested the hypothesis that the cGMP-dependent protein kinase has major negative functional effects in cardiac myocytes and that the importance of this pathway is reduced in thyroxine (T4; 0.5 mg/kg per day for 16 days) hypertrophic myocytes. 2. Using isolated ventricular myocytes from control (n = 7) and T4-treated (n = 9) rabbit hypertrophic hearts, myocyte shortening was studied with a video edge detector. Oxygen consumption was measured using O2 electrodes. Protein phosphorylation was measured autoradiographically. 3. Data were collected following treatment with: (i) 8-(4-chlorophenylthio)guanosine-3',5'-monophosphate (PCPT; 10-7 or 10-5 mol/L); (ii) 8-bromo-cAMP (10-5 mol/L) followed by PCPT; (iii) beta-phenyl-1,N2-etheno-8-bromoguanosine-3',5'-monophosphorothioate, SP-isomer (SP; 10-7 or 10-5 mol/L); or (iv) 8-bromo-cAMP (10-5 mol/L) followed by SP. 4. There were no significant differences between groups in baseline percentage shortening (Pcs; 4.9 +/- 0.2 vs 5.6 +/- 0.4% for control and T4 groups, respectively) and maximal rate of shortening (Rs; 64.8 +/- 5.9 vs 79.9 +/- 7.1 micro m/ s for control and T4 groups, respectively). Both SP and PCPT decreased Pcs (-43 vs-21% for control and T4 groups, respectively) and Rs (-36 vs-22% for control and T4 groups, respectively), but the effect was significantly reduced in T4 myocytes. 8-Bromo-cAMP similarly increased Pcs (28 vs 23% for control and T4 groups, respectively) and Rs (20 vs 19% for control and T4 groups, respectively). After 8-bromo-cAMP, SP and PCPT decreased Pcs (-34%) and Rs (-29%) less in the control group. However, the effects of these drugs were not altered in T4 myocytes (Pcs -24%; Rs -22%). Both PCPT and cAMP phosphorylated the same five protein bands. In T4 myocytes, these five bands were enhanced less. 5. We conclude that, in control ventricular myocytes, the cGMP-dependent protein kinase exerted major negative functional effects but, in T4-induced hypertrophic myocytes, the importance of

  20. A new CO2 laser technique for the treatment of pediatric hypertrophic burn scars

    PubMed Central

    Żądkowski, Tomasz; Nachulewicz, Paweł; Mazgaj, Maciej; Woźniak, Magdalena; Cielecki, Czesław; Wieczorek, Andrzej Paweł; Beń-Skowronek, Iwona

    2016-01-01

    Abstract Treatment of hypertrophic scars arising as a result of thermal burns in children is still a big problem. The results of the treatment are not satisfactory for patients and parents, and new methods of treatment are still investigated. We present the use of one of the most modern carbon dioxide (CO2) lasers (Lumenis Encore laser equipped with a Synergistic Coagulation and Ablation for Advanced Resurfacing module) in the treatment of hypertrophic scars in children after burns. From March to April of 2013, a group of 47 patients aged 6 to 16 years underwent 57 laser surgery treatments. The average time from accident was 7.5 years. The results of treatment were investigated in 114 areas. The assessed areas were divided into 2 groups: 9-cm2 area 1, where the thickness of the scar measured by physician was the lowest and 9-cm2 area 2, where the thickness of the scar was the biggest. The results were considered on the Vancouver Scar Scale (VSS) independently by the surgeon and by parents 1, 4, and 8 months after the procedure. In addition, ultrasound evaluation of the scar thickness before and after laser procedure was made. VSS total score improved in all areas assessed by both the physician and parents. The biggest change in total VSS score in area 1 in the evaluation of the investigator was obtained at follow-up after the 1st month of treatment (average 7.23 points before and 5.18 points after the 1st month after surgery—a difference of 2.05 points). Scar ratings by parents and the physician did not differ statistically (P < 0.05). In the ultrasound assessment, the improvement was statistically significant, more frequently for both minimum and maximum thickness of the scars (B-mode measures) (P < 0.05). The use of a CO2 laser in the treatment of hypertrophic scars in children is an effective and safe method. The use of a CO2 laser improves the appearance and morphology of scarring assessed using the VSS by both the parents and the physician. The

  1. Hypertrophic cardiomyopathy

    MedlinePlus

    ... thickness, problems with blood flow, or leaky heart valves ( mitral valve regurgitation ) may include: Echocardiography ECG 24-hour Holter ... You may need surgery to repair the heart's mitral valve if it is leaking. Watch this video about: ...

  2. Quality-of-care indicators for infantile spasms.

    PubMed

    Wang, C Jason; Jonas, Rinat; Fu, Chong Min; Ng, Chun Y; Douglass, Laurie

    2013-01-01

    We developed a comprehensive set of quality-of-care indicators for the management of children with infantile spasms in the United States, encompassing evaluation, diagnosis, treatment, and prevention and management of side effects and comorbidities. The indicators were developed using the RAND/UCLA Modified Delphi Method. After a focused review of the literature and guidelines by the study team, an expert panel (nominated by leaders of Child Neurology Society, American Epilepsy Society, and National Institute for Neurologic Disorders) rated the draft indicators anonymously, met face-to-face to discuss each indicator, and rerated the revised indicators on validity, feasibility, and importance. The panel recommended 21 indicators, of which 8 were identified as most likely to have a large positive impact on improving quality of life and/or health outcomes for children with infantile spasms. The proposed indicators can be used to assess and document variations and gaps in quality-of-care and inform future research and quality improvement interventions.

  3. [Malignant infantile osteopetrosis revealed by choanal atresia: A case report].

    PubMed

    Ba, I D; Ba, A; Thiongane, A; Ly/Ba, A; Ba, M; Fattah, M; Faye, P M; Cissé, D F; Diouf, F N

    2016-05-01

    Malignant infantile osteopetrosis is a rare genetic disease characterized by increased bone density due to osteoclastic dysfunction. We report on the case of a 3-month-old girl who was referred to our hospital by the ENT department for severe anemia in the context of bilateral choanal atresia. Clinical examination showed failure to thrive, anemia, respiratory distress, bilateral choanal atresia, and chest deformation. The abdomen was soft with large hepatosplenomegaly. We noted a lack of eye tracking, no optical-visual reflexes, and left nerve facial paralysis. The blood count showed normocytic normochromic anemia with severe thrombocytopenia. The infectious work-up and blood smears were negative. The skeleton X-ray showed diffuse bone densification of the skull, long bones, pelvis, vertebrae, and ribs. The facial bone CT confirmed membranous choanal atresia. The molecular biology search for the TCIRG1 gene mutation was not available. The patient had supportive treatment (transfusion, oral steroid, vitamin D, oxygen, nutrition). Bone marrow transplantation was indicated but not available. She died at 6 months in a context of severe anemia and bleeding. Malignant infantile osteopetrosis is rare and symptoms are nonspecific. Diagnosis should be considered in young infants presenting refractory anemia, particularly in the context of choanal atresia. Bone marrow transplantation remains the only curative treatment.

  4. Cardiovascular Profile of Propranolol after Multiple Dosing in Infantile Hemangioma.

    PubMed

    Salice, Patrizia; Giovanni Bianchetti, Mario; Giavarini, Alessandra; Gondoni, Erica; Cavalli, Riccardo; Maria Colli, Anna; Lombardi, Federico

    2017-01-01

    Propranolol is becoming the treatment of choice for complicated infantile hemangioma. We report here data on peripheral blood flow, O2-saturation, electrocardiographic PR-interval, left ventricular function, blood pressure and heart rate that were assessed before and during treatment for ≥4 weeks with propranolol 2 mg/kg of body weight daily in 67 infants <12 months of age in normal sinus rhythm and with structurally normal hearts. Management with propranolol was well tolerated in all and did not modify peripheral blood flow, O2-saturation, electrocardiographic PR-interval and left ventricular fractional shortening or ejection fraction. Absolute blood pressure levels were similar without and with propranolol. However, age-adjusted centile levels for both systolic and diastolic levels were significantly lower while on propranolol. The heart rate was significantly lower both when expressed as absolute value and when expressed as age-adjusted centile on treatment with propranolol. In conclusion, propranolol 2 mg/kg of body weight daily causes a statistically though not clinically relevant decrease in blood pressure and heart rate in cardially healthy infants affected by infantile hemangioma. Temporary discontinuation during acute febrile illnesses and during diarrheal diseases should be considered to prevent excessive hypotension.

  5. Cardiac CT angiography in the emergency room: Apical hypertrophic cardiomyopathy presenting as acute coronary syndrome.

    PubMed

    Turner, Michael C; Kerut, Edmund K; Mckinnie, James; Davis, Michael; Hinton, Christine

    2017-03-07

    A 59-year-old male presented to the emergency room with symptoms of chest tightness and palpitations. Following conversion of atrial fibrillation to sinus rhythm, he had deep symmetrical T-wave changes on his electrocardiogram. Symptoms resolved almost immediately, and his initial troponin was negative. He underwent cardiac CT angiography utilizing an emergency room triage protocol which resulted in a diagnosis of nonobstructive coronary artery disease and apical hypertrophic cardiomyopathy. Following a hospital stay of less than 24 hours, he was discharged to outpatient follow-up on medical management and has remained asymptomatic over 6 months. This case presentation illustrates an example of the diversity of pathology that presents in emergency rooms with symptoms consistent with acute coronary syndrome.

  6. MicroRNAs Based Therapy of Hypertrophic Cardiomyopathy: The Road Traveled So Far

    PubMed Central

    Roma-Rodrigues, Catarina; Raposo, Luís R.; Fernandes, Alexandra R.

    2015-01-01

    Hypertrophic cardiomyopathy (HCM) is an autosomal dominant disease characterized by variable expressivity, age penetrance, and a high heterogeneity. The transcriptional profile (miRNAs, mRNAs), epigenetic modifications, and posttranslational modifications seem to be highly relevant for the onset of the disease. miRNAs, small noncoding RNAs with 22 nucleotides, have been implicated in the regulation of cardiomyocyte function, being differentially expressed in several heart diseases, including HCM. Moreover, a different miRNA expression profile in the various stages of HCM development is also observed. This review summarizes the current knowledge of the profile of miRNAs characteristic of asymptomatic to overt HCM patients, discussing alongside their potential use for diagnosis and therapy. Indeed, the stability and specificity of miRNAs make them suitable targets for use as biomarkers for diagnosis and prognosis and as therapeutical targets. PMID:26504850

  7. Titin, a Central Mediator for Hypertrophic Signaling, Exercise-Induced Mechanosignaling and Skeletal Muscle Remodeling

    PubMed Central

    Krüger, Martina; Kötter, Sebastian

    2016-01-01

    Titin is a giant scaffold protein with multiple functions in striated muscle physiology. Due to the elastic I-band domains and the filament-like integration in the half-sarcomere titin is an important factor for sarcomere assembly and serves as an adaptable molecular spring that determines myofilament distensibility. Protein-interactions e.g., with muscle ankyrin repeat proteins or muscle LIM-protein link titin to hypertrophic signaling and via p62 and Muscle Ring Finger proteins to mechanisms that control protein quality control. This review summarizes our current knowledge on titin as a central node for exercise-induced mechanosignaling and remodeling and further highlights the pathophysiological implications. PMID:26973541

  8. Bilateral Hypertrophic Olivary Degeneration and Holmes Tremor without Palatal Tremor: An Unusual Association

    PubMed Central

    Cosentino, Carlos; Velez, Miriam; Nuñez, Yesenia; Palomino, Henry; Quispe, Darko; Flores, Martha; Torres, Luis

    2016-01-01

    Background Lesions in the Guillain–Mollaret triangle or dentate-rubro-olivary pathway may lead to hypertrophic olivary degeneration (HOD), a secondary trans-synaptic degeneration of the inferior olivary nucleus. HOD is usually associated with palatal tremor and rarely with Holmes tremor. Bilateral HOD is a very unusual condition and very few cases are reported. Case Report We report here two cases of bilateral HOD after two different vascular lesions located at the decussation of superior cerebellar peduncles, thus impairing both central tegmental tracts and interrupting bilaterally the dentate-rubral-olivary pathway. Interestingly, both developed bilateral Holmes tremor but not palatal tremor. Discussion Lesions in some of the components in the Guillain–Mollaret triangle may develop Holmes tremor with HOD and without palatal tremor. Magnetic resonance imaging is an invaluable tool in these cases. Better understanding of the pathways in this loop is needed. PMID:27536461

  9. Clubbed fingers and hypertrophic osteoarthropathy in a patient with squamous cell carcinoma of the lung.

    PubMed

    Yang, Wen-Chi; Lin, Shih-Chang; Liu, Ta-Chih; Chen, Chung-Jen; Yen, Jeng-Hsien; Ou, Tsan-Teng; Liu, Hong-Wen; Tsai, Wen-Chan

    2003-04-01

    Hypertrophic osteoarthropathy (HOA) is characterized by clubbed fingers and periosteal new bone formation. Etiologically, it can be divided into primary and secondary HOA, but its pathogenesis is uncertain. We report a 42-year-old male patient who suffered from painful clubbing fingers and toes. Serial examinations revealed periosteal new bone formation in the four limb long bones and a solid mass lesion in the right upper lung field. Pathologic examination of the resected mass lesion showed squamous cell carcinoma. After surgery and chemotherapy, the severity of clubbed fingers decreased and joint pain improved. Follow-up bone scan also suggested regression of the uptake of radioactivity in the four limb bones. We concluded that the HOA in this case was probably caused by lung cancer.

  10. Narrative review: harnessing molecular genetics for the diagnosis and management of hypertrophic cardiomyopathy.

    PubMed

    Wang, Libin; Seidman, Jonathan G; Seidman, Christine E

    2010-04-20

    Unexplained cardiac hypertrophy, the diagnostic criterion for hypertrophic cardiomyopathy (HCM), occurs in 1 in 500 adults. Insights into the genetic cause and molecular pathophysiology of HCM are reshaping clinical paradigms for diagnosis and treatment of this common myocardial disorder. Human genetic studies have established that dominant mutations in the proteins that make up the contractile apparatus (the sarcomere) cause HCM. With the current availability of clinical gene-based diagnostics, pathogenic mutations in affected patients can be defined, which can suggest a clinical course and allow definitive preclinical identification of family members at risk for HCM. Genetic discoveries have also fostered mechanistic investigations in model organisms that are engineered to carry human HCM mutations. Novel therapeutic targets have emerged from these fundamental studies and are currently under clinical assessment in humans. The combination of contemporary gene-based diagnosis with new strategies to attenuate disease development and progression is changing the natural history of lifelong cardiac symptoms, arrhythmias, and heart failure from HCM.

  11. Isolated papillary muscle hypertrophy: A gap in our knowledge of hypertrophic cardiomyopathy?

    PubMed

    Ferreira, Catarina; Delgado, Carlos; Vázquez, María; Trinidad, Carmen; Vilar, Manuel

    2014-06-01

    Increased thickness of left ventricular walls is the predominant characteristic and one of the diagnostic criteria of hypertrophic cardiomyopathy (HCM). This case illustrates an uncommon but important finding of isolated hypertrophy of the papillary muscles (PMs), observed in a young woman in whom an abnormal electrocardiogram was initially detected. During the investigation isolated PM hypertrophy was identified. The structural characteristics of the PMs have received scant attention in this setting and there is little information in the literature on this entity, whose real prevalence and clinical significance remain to be determined. The available information relates solitary PM hypertrophy with an early form or a different pattern of HCM. In this case PM hypertrophy was only detected due to the finding of an abnormal electrocardiogram, which prompted further diagnostic tests and a search for possible etiologies.

  12. Cardiac Magnetic Resonance and Computed Tomography in Hypertrophic Cardiomyopathy: an Update

    PubMed Central

    de Oliveira, Diogo Costa Leandro; Assunção, Fernanda Boldrini; dos Santos, Alair Agusto Sarmet Moreira Damas; Nacif, Marcelo Souto

    2016-01-01

    Hypertrophic cardiomyopathy (HCM) is the most common genetic cardiovascular disease and represents the main cause of sudden death in young patients. Cardiac magnetic resonance (CMR) and cardiac computed tomography (CCT) are noninvasive imaging methods with high sensitivity and specificity, useful for the establishment of diagnosis and prognosis of HCM, and for the screening of patients with subclinical phenotypes. The improvement of image analysis by CMR and CCT offers the potential to promote interventions aiming at stopping the natural course of the disease. This study aims to describe the role of RCM and CCT in the diagnosis and prognosis of HCM, and how these methods can be used in the management of these patients. PMID:27305111

  13. Alterations in sarcomere function modify the hyperplastic to hypertrophic transition phase of mammalian cardiomyocyte development

    PubMed Central

    Nixon, Benjamin R.; Williams, Alexandra F.; Glennon, Michael S.; de Feria, Alejandro E.; Sebag, Sara C.; Baldwin, H. Scott; Becker, Jason R.

    2017-01-01

    It remains unclear how perturbations in cardiomyocyte sarcomere function alter postnatal heart development. We utilized murine models that allowed manipulation of cardiac myosin-binding protein C (MYBPC3) expression at critical stages of cardiac ontogeny to study the response of the postnatal heart to disrupted sarcomere function. We discovered that the hyperplastic to hypertrophic transition phase of mammalian heart development was altered in mice lacking MYBPC3 and this was the critical period for subsequent development of cardiomyopathy. Specifically, MYBPC3-null hearts developed evidence of increased cardiomyocyte endoreplication, which was accompanied by enhanced expression of cell cycle stimulatory cyclins and increased phosphorylation of retinoblastoma protein. Interestingly, this response was self-limited at later developmental time points by an upregulation of the cyclin-dependent kinase inhibitor p21. These results provide valuable insights into how alterations in sarcomere protein function modify postnatal heart development and highlight the potential for targeting cell cycle regulatory pathways to counteract cardiomyopathic stimuli. PMID:28239655

  14. Comparison of different laser systems in the treatment of hypertrophic and atrophic scars and keloids

    NASA Astrophysics Data System (ADS)

    Scharschmidt, D.; Algermissen, Bernd; Willms-Jones, J.-C.; Philipp, Carsten M.; Berlien, Hans-Peter

    1997-12-01

    Different laser systems and techniques are used for the treatment of hypertrophic scars, keloids and acne scars. Significant criteria in selecting a suitable laser system are the scar's vascularization, age and diameter. Flashlamp- pumped dye-lasers, CO2-lasers with scanner, Argon and Nd:YAG-lasers are used. Telangiectatic scars respond well to argon lasers, erythematous scars and keloids to dye-laser treatment. Using interstitial Nd:YAG-laser vaporization, scars with a cross-section over 1 cm can generally be reduced. For the treatment of atrophic and acne scars good cosmetic results are achieved with a CO2-laser/scanner system, which allows a precise ablation of the upper dermis with low risk of side-effects.

  15. Hypertrophic Obstructive Cardiomyopathy Masked by Tako-Tsubo Syndrome: A Case Report

    PubMed Central

    Daralammori, Y.; El Garhy, M.; Gayed, M. R.; Farah, A.; Lauer, B.; Secknus, M. A.

    2012-01-01

    Introduction. Left ventricular outflow obstruction might be part of the pathophysiological mechanism of Tako-tsubo cardiomyopathy. This obstruction can be masked by Tako-tsubo cardiomyopathy and diagnosed only by followup. Case Presentation. A 70-year-old female presented with Tako-tsubo cardiomyopathy and masked obstructive hypertrophic cardiomyopathy at presentation. Conclusion. Tako-tsubo cardiomyopathy typically presents like an acute MI and is characterized by severe, but transient, regional left ventricular systolic dysfunction. Prompt evaluation of the coronary status is, therefore, mandatory. The prognosis under medical treatment of heart failure symptoms and watchful waiting is favourable. Previous studies showed that LVOT obstruction might be part of the pathophysiological mechanism of TCM. This paper supports this theory. However, TCM may also mask any preexisting LVOT obstruction. PMID:24826256

  16. [Anaesthetic management of caesarean section in pregnancy with diabetes and hypertrophic myocardiopathy with restrictive diastolic dysfunction].

    PubMed

    Holgado, C M; Coves, S

    2013-02-01

    Haemodynamic changes that occur during pregnancy are maximal between 28 and 34 weeks. In the pregnant woman with several associated diseases, such as hypertensive myocardiopathy and pre-gestational diabetes, these changes can lead to a difficult control of pulmonary hypertension and acute pulmonary oedema. We report the case of a pregnant woman with long term type 1 diabetes mellitus who suffered pre-eclampsia in a previous pregnancy, and since then developed hypertensive cardiomyopathy. She was admitted at 30 week gestation for metabolic and blood pressure control, and developed congestive cardiac failure after the administration of betamethasone for foetal lung maturity. A transthoracic echocardiogram showed a non-dilated hypertrophic left ventricle with good systolic function, restrictive diastolic dysfunction and moderate pulmonary arterial hypertension. When her general condition improved, we performed a caesarean section under regional anaesthesia to prevent the complications of pulmonary and systemic hypertension. We present the anaesthetic management and resolution of complications after oxytocin administration.

  17. Hypertrophic cardiomyopathy in daily practice: an introduction on diagnosis, prognosis and treatment

    PubMed Central

    van der Lee, C.; Kofflard, M. J.; Geleijnse, M.L.; ten Cate, F.J.

    2005-01-01

    Hypertrophic cardiomyopathy (HCM) is a complex, inherited cardiac disease that has been subject to intense investigation since it was first described in 1957. Over the past 40 years, understanding has evolved regarding the diagnosis, prognosis and treatment of HCM. Analyses of HCM populations from nonreferral centres have refined the insights into the natural history and the occurrence of sudden cardiac death, which is the most devastating component of its natural history. Therapeutic strategies are diverse and may vary during the course of the disease. Optimal therapy depends on symptoms, haemodynamic findings and the presence of risk factors for sudden cardiac death. At present, invasive therapy for patients with obstructive HCM and drug-refractory symptoms includes surgery or percutaneous transluminal septal myocardial ablation. This report summarises the diagnostic criteria, clinical course and therapeutic management of HCM. Attention is also paid to certain issues of special interest in this disease. ImagesFigure 1Figure 2Figure 4Figure 5Figure 6 PMID:25696443

  18. Infantile fibrosarcoma of ethmoid sinus, misdiagnosed as an adenoid in a 5-year-old child

    PubMed Central

    Geramizadeh, Bita; Khademi, Bijan; Karimi, Mehran; Shekarkhar, Golsa

    2015-01-01

    Infantile fibrosarcoma of head and neck is rare and the presence of this tumor in ethmoid sinus is even more uncommon. To the best of our knowledge, <5 cases have been reported in the last 20 years in the English literature, so far, only one of which has been infantile type in a 15 months old girl. In this case report, we will explain our experience with a rare case of infantile fibrosarcoma originating from ethmoid sinus in a 5-year-old boy who presented with dyspnea and epistaxis. After biopsy, it was diagnosed as fibrosarcoma of sinus origin. PMID:26604519

  19. Diazoxide prevents reactive oxygen species and mitochondrial damage, leading to anti-hypertrophic effects.

    PubMed

    Lucas, Aline M; Caldas, Francisco R; da Silva, Amanda P; Ventura, Maximiano M; Leite, Iago M; Filgueiras, Ana B; Silva, Claúdio G L; Kowaltowski, Alicia J; Facundo, Heberty T

    2017-01-05

    Pathological cardiac hypertrophy is characterized by wall thickening or chamber enlargement of the heart in response to pressure or volume overload, respectively. This condition will, initially, improve the organ contractile function, but if sustained will render dysfunctional mitochondria and oxidative stress. Mitochondrial ATP-sensitive K(+) channels (mitoKATP) modulate the redox status of the cell and protect against several cardiac insults. Here, we tested the hypothesis that mitoKATP opening (using diazoxide) will avoid isoproterenol-induced cardiac hypertrophy in vivo by decreasing reactive oxygen species (ROS) production and mitochondrial Ca(2+)-induced swelling. To induce cardiac hypertrophy, Swiss mice were treated intraperitoneally with isoproterenol (30 mg/kg/day) for 8 days. Diazoxide (5 mg/kg/day) was used to open mitoKATP and 5-hydroxydecanoate (5 mg/kg/day) was administrated as a mitoKATP blocker. Isoproterenol-treated mice had elevated heart weight/tibia length ratios and increased myocyte cross-sectional areas. Additionally, hypertrophic hearts produced higher levels of H2O2 and had lower glutathione peroxidase activity. In contrast, mitoKATP opening with diazoxide blocked all isoproterenol effects in a manner reversed by 5-hydroxydecanoate. Isolated mitochondria from Isoproterenol-induced hypertrophic hearts had increased susceptibility to Ca(2+)-induced swelling secondary to mitochondrial permeability transition pore opening. MitokATP opening was accompanied by lower Ca(2+)-induced mitochondrial swelling, an effect blocked by 5-hydroxydecanoate. Our results suggest that mitoKATP opening negatively regulates cardiac hypertrophy by avoiding oxidative impairment and mitochondrial damage.

  20. Training-specific functional, neural, and hypertrophic adaptations to explosive- vs. sustained-contraction strength training.

    PubMed

    Balshaw, Thomas G; Massey, Garry J; Maden-Wilkinson, Thomas M; Tillin, Neale A; Folland, Jonathan P

    2016-06-01

    Training specificity is considered important for strength training, although the functional and underpinning physiological adaptations to different types of training, including brief explosive contractions, are poorly understood. This study compared the effects of 12 wk of explosive-contraction (ECT, n = 13) vs. sustained-contraction (SCT, n = 16) strength training vs. control (n = 14) on the functional, neural, hypertrophic, and intrinsic contractile characteristics of healthy young men. Training involved 40 isometric knee extension repetitions (3 times/wk): contracting as fast and hard as possible for ∼1 s (ECT) or gradually increasing to 75% of maximum voluntary torque (MVT) before holding for 3 s (SCT). Torque and electromyography during maximum and explosive contractions, torque during evoked octet contractions, and total quadriceps muscle volume (QUADSVOL) were quantified pre and post training. MVT increased more after SCT than ECT [23 vs. 17%; effect size (ES) = 0.69], with similar increases in neural drive, but greater QUADSVOL changes after SCT (8.1 vs. 2.6%; ES = 0.74). ECT improved explosive torque at all time points (17-34%; 0.54 ≤ ES ≤ 0.76) because of increased neural drive (17-28%), whereas only late-phase explosive torque (150 ms, 12%; ES = 1.48) and corresponding neural drive (18%) increased after SCT. Changes in evoked torque indicated slowing of the contractile properties of the muscle-tendon unit after both training interventions. These results showed training-specific functional changes that appeared to be due to distinct neural and hypertrophic adaptations. ECT produced a wider range of functional adaptations than SCT, and given the lesser demands of ECT, this type of training provides a highly efficient means of increasing function.

  1. Annexin A7 deficiency potentiates cardiac NFAT activity promoting hypertrophic signaling

    SciTech Connect

    Voelkl, Jakob; Alesutan, Ioana; Pakladok, Tatsiana; Viereck, Robert; Feger, Martina; Mia, Sobuj; Schönberger, Tanja; Noegel, Angelika A.; Gawaz, Meinrad; Lang, Florian

    2014-02-28

    Highlights: • Cardiac Anxa7 expression was up-regulated following TAC. • The hypertrophic response following TAC was augmented in Anxa7-deficient mice. • Silencing of Anxa7 increased indicators of HL-1 cardiomyocytes hypertrophy. • Silencing of Anxa7 induced Nfatc1 nuclear translocation. • Silencing of Anxa7 enhanced NFAT-dependent transcriptional activity. - Abstract: Annexin A7 (Anxa7) is a cytoskeletal protein interacting with Ca{sup 2+} signaling which in turn is a crucial factor for cardiac remodeling following cardiac injury. The present study explored whether Anxa7 participates in the regulation of cardiac stress signaling. To this end, mice lacking functional Anxa7 (anxa7{sup −/−}) and wild-type mice (anxa7{sup +/+}) were investigated following pressure overload by transverse aortic constriction (TAC). In addition, HL-1 cardiomyocytes were silenced with Anxa7 siRNA and treated with isoproterenol. Transcript levels were determined by quantitative RT-PCR, transcriptional activity by luciferase reporter assay and protein abundance by Western blotting and confocal microscopy. As a result, TAC treatment increased the mRNA and protein levels of Anxa7 in wild-type mice. Moreover, TAC increased heart weight to body weight ratio and the cardiac mRNA levels of αSka, Nppb, Col1a1, Col3a1 and Rcan1, effects more pronounced in anxa7{sup −/−} mice than in anxa7{sup +/+} mice. Silencing of Anxa7 in HL-1 cardiomyocytes significantly increased nuclear localization of Nfatc1. Furthermore, Anxa7 silencing increased NFAT-dependent transcriptional activity as well as αSka, Nppb, and Rcan1 mRNA levels both, under control conditions and following β-adrenergic stimulation by isoproterenol. These observations point to an important role of annexin A7 in the regulation of cardiac NFAT activity and hypertrophic response following cardiac stress conditions.

  2. Relationship between impaired adipogenesis of retroperitoneal adipose tissue and hypertrophic obesity: role of endogenous glucocorticoid excess

    PubMed Central

    Zubiría, María G; Vidal-Bravo, Juana; Spinedi, Eduardo; Giovambattista, Andrés

    2014-01-01

    Although the pro-adipogenic effect of glucocorticoid (GC) on adipose tissue (AT) precursor cell differentiation is openly accepted, the effect of chronically high peripheral levels of GC on AT mass expansion is not fully understood. In the present study, we aim to assess the in vitro adipogenic capacity of AT precursor cells isolated from retroperitoneal (RP) AT pads of the hypercorticosteronaemic, adult neonatally treated monosodium L-glutamate (MSG) male rat. To ascertain this issue, we explored the in vitro adipogenic process of stromal-vascular fraction (SVF) cells isolated from RPAT pads of 60-day-old MSG rats. The data recorded indicated that RPAT-SVF cells from hypercorticosteronaemic MSG rats, although displaying an enhanced proliferation capacity, differentiated slower than normal cells. This dysfunction was associated with a reduction in key parameters indicative of precursor cell commitment, differentiation capacity and the percentage of fully differentiated adipocytes, with a retarded maturation process. The distorted adipogenic capacity was highly conditioned by RPAT-SVF cells displaying a low committed population and both excessive and reduced expression of anti- (Pref-1 and Wnt-10b) and pro-adipogenic (mineralocorticoid receptor) signals respectively. Notably, the normalization of peripheral corticosterone levels in MSG rats, as a result of bilateral adrenalectomy combined with GC replacement therapy, fully prevented reduced RPAT precursor cell commitment and overall impaired adipogenesis. Our study strongly supports that the impaired adipogenic process observed in the adult hypertrophic obese MSG male rat is a GC-dependent mechanism, thus explaining the unhealthy RPAT expansion observed in human hypertrophic obese phenotypes, such as in the Cushing's syndrome. PMID:24913911

  3. In vitro functional characterization of prostaglandin-endoperoxide synthase 2 during chondrocyte hypertrophic differentiation

    PubMed Central

    Zhu, Ting; Qiao, Longwei; Zhang, Fei; Mi, Rui; Wang, Bo; Chen, Lin; Gu, Junxia; Lu, Yaojuan; Zheng, Qiping

    2016-01-01

    Cyclooxygenase 2 (Cox-2) has been implicated an essential role during bone repair, but the mechanisms remain elusive. Bone repair healing is known to include processes similar to endochondral ossification. In this study, we investigated the in vitro effect of Cox-2 on Col10a1 expression and chondrocyte hypertrophy, two critical components of endochondral ossification. Using quantitative RT-PCR, we detected increased mRNA levels of Cox-2 and Col10a1 in hypertrophic MCT cells, while cells treated with Cox-2 inhibitor, NS398, showed decreased mRNA and protein levels of Cox-2 and Col10a1. Increased Cox-2 also correlated with significantly upregulated Col10a1 in hypertrophic ATDC5 cells, whereas inhibition of Cox-2 significantly decreased Col10a1 expression. We further generated a Cox-2-expressing ATDC5 stable cell line. Compared with the controls, Cox-2 over-expression significantly increased Col10a1 as early as day 7 of continuous culturing, but not at days 14 and 21. Enhanced Alp staining was also observed in day 7 stable cell line. Correspondingly, we detected significantly increased levels of Runx2, Alp, Bcl-2, Bax, Col1a1, Osterix, and Bsp in day 7 stable line. Most of these genes have been associated with chondrocyte maturation and apoptosis. Together, our results support that Cox-2 promotes Col10a1 expression and chondrocyte hypertrophy in vitro, possibly through upregulation of Runx2 and other relevant transcription factors. PMID:27121205

  4. The clinical features, outcomes and genetic characteristics of hypertrophic cardiomyopathy patients with severe right ventricular hypertrophy

    PubMed Central

    Guo, Xiying; Fan, Chaomei; Tian, Lei; Zhang, Xiuling; Zhao, Xing; Wang, Fengqi; Zhu, Hongguang; Lin, Aiqing; Wu, Xia; Li, Yishi

    2017-01-01

    Introduction Severe right ventricular hypertrophy (SRVH) is a rare phenotype in hypertrophic cardiomyopathy (HCM) for which limited information is available. This study was undertaken to investigate the clinical, prognostic and genetic characteristics of HCM patients with SRVH. Methods HCM with SRVH was defined as HCM with a maximum right ventricular wall thickness ≥10 mm. Whole-genome sequencing (WGS) was performed in HCM patients with SRVH. Multivariate Cox proportional hazards regression models were used to identify risk factors for cardiac death and events in HCM with SRVH. Patients with apical hypertrophic cardiomyopathy (ApHCM) were selected as a comparison group. The clinical features and outcomes of 34 HCM patients with SRVH and 273 ApHCM patients were compared. Results Compared with the ApHCM group, the HCM with SRVH group included younger patients and a higher proportion of female patients and also displayed higher cardiovascular morbidity and mortality. The multivariate Cox proportional hazards regression models identified 2 independent predictors of cardiovascular death in HCM patients with SRVH, a New York Heart Association class ≥III (hazard ratio [HR] = 8.7, 95% confidence interval (CI): 1.43-52.87, p = 0.019) and an age at the time of HCM diagnosis ≤18 (HR = 5.5, 95% CI: 1.24-28.36, p = 0.026). Among the 11 HCM patients with SRVH who underwent WGS, 10 (90.9%) were identified as carriers of at least one specific sarcomere gene mutation. MYH7 and TTN mutations were the most common sarcomere mutations noted in this study. Two or more HCM-related gene mutations were observed in 9 (82%) patients, and mutations in either other cardiomyopathy-related genes or ion-channel disease-related genes were found in 8 (73%) patients. Conclusions HCM patients with SRVH were characterized by poor clinical outcomes and the presentation of multiple gene mutations. PMID:28323875

  5. Shortening baroreflex delay in hypertrophic cardiomyopathy patients – an unknown effect of β-blockers

    PubMed Central

    Katarzynska-Szymanska, Agnieszka; Ochotny, Romuald; Oko-Sarnowska, Zofia; Wachowiak-Baszynska, Hanna; Krauze, Tomasz; Piskorski, Jaroslaw; Gwizdala, Adrian; Mitkowski, Przemyslaw; Guzik, Przemyslaw

    2013-01-01

    Aims Hypertrophic cardiomyopathy (HCM) is characterized by left ventricular hypertrophy and impaired diastolic and systolic function. Abnormal sympathetic–parasympathetic balance is a potential stimulus for left ventricular hypertrophy in HCM patients. β-Blockers are routinely used in HCM for their strong negative inotropic effect; however, these drugs also influence the sympathetic–parasympathetic balance. This study aimed to determine the autonomic control of the cardiovascular system and the autonomic effects of β-blockers in HCM patients treated or untreated with β-blockers. Methods Among 51 HCM outpatients (18–70 years old; 29 men) there were 19 individuals with no medication and 32 subjects treated with a β-blocker. Fourteen age- and gender-matched (23–70 years old; nine men) healthy volunteers were enrolled in the control group. Continuous, non-invasive finger blood pressure was recorded during supine rest for 30 min. Autonomic regulation of the cardiovascular system was measured by heart rate variability and spontaneous baroreflex function (cross-correlation sequence method). Results The mean pulse interval, time domain and spectral measures of heart rate variability and baroreflex sensitivity were comparable between HCM patients, treated or not with β-blockers, and the control group. However, the delay of the baroreflex was significantly longer in HCM patients who were not treated with β-blockers [2.0 (1.6–2.3) s] in comparison with HCM patients receiving β-blockers [1.4 (1.1–1.8) s; P = 0.0072] or control subjects [1.2 (0.8–1.8) s; P = 0.0025]. This delay did not differ between HCM patients treated with β-blockers and the control group. Conclusions Hypertrophic cardiomyopathy not treated with β-blockers is accompanied by prolonged baroreflex delay. The use of β-blockers normalizes this delay. PMID:23126403

  6. Rising CO2 Levels Will Intensify Phytoplankton Blooms in Eutrophic and Hypertrophic Lakes

    PubMed Central

    Verspagen, Jolanda M. H.; Van de Waal, Dedmer B.; Finke, Jan F.; Visser, Petra M.; Van Donk, Ellen; Huisman, Jef

    2014-01-01

    Harmful algal blooms threaten the water quality of many eutrophic and hypertrophic lakes and cause severe ecological and economic damage worldwide. Dense blooms often deplete the dissolved CO2 concentration and raise pH. Yet, quantitative prediction of the feedbacks between phytoplankton growth, CO2 drawdown and the inorganic carbon chemistry of aquatic ecosystems has received surprisingly little attention. Here, we develop a mathematical model to predict dynamic changes in dissolved inorganic carbon (DIC), pH and alkalinity during phytoplankton bloom development. We tested the model in chemostat experiments with the freshwater cyanobacterium Microcystis aeruginosa at different CO2 levels. The experiments showed that dense blooms sequestered large amounts of atmospheric CO2, not only by their own biomass production but also by inducing a high pH and alkalinity that enhanced the capacity for DIC storage in the system. We used the model to explore how phytoplankton blooms of eutrophic waters will respond to rising CO2 levels. The model predicts that (1) dense phytoplankton blooms in low- and moderately alkaline waters can deplete the dissolved CO2 concentration to limiting levels and raise the pH over a relatively wide range of atmospheric CO2 conditions, (2) rising atmospheric CO2 levels will enhance phytoplankton blooms in low- and moderately alkaline waters with high nutrient loads, and (3) above some threshold, rising atmospheric CO2 will alleviate phytoplankton blooms from carbon limitation, resulting in less intense CO2 depletion and a lesser increase in pH. Sensitivity analysis indicated that the model predictions were qualitatively robust. Quantitatively, the predictions were sensitive to variation in lake depth, DIC input and CO2 gas transfer across the air-water interface, but relatively robust to variation in the carbon uptake mechanisms of phytoplankton. In total, these findings warn that rising CO2 levels may result in a marked intensification of

  7. Idiopathic hypertrophic pachymeningitis: an autoimmune IgG4-related disease.

    PubMed

    De Virgilio, Armando; de Vincentiis, Marco; Inghilleri, Maurizio; Fabrini, Giovanni; Conte, Michela; Gallo, Andrea; Rizzo, Maria Ida; Greco, Antonio

    2016-09-03

    Hypertrophic pachymeningitis (HP) is a rare disorder that causes thickening of the dura mater. Inflammatory lesions may be located in the cerebral or spinal dura mater or, less frequently, in both locations simultaneously. Numerous clinico-pathological entities cause thickening of the pachymeninges. Indeed, HP is a potential manifestation of many different diseases, but the diagnosis often remains uncertain. Cases in which the pachymeningitis has no known aetiology are termed "idiopathic" HP (IHP). Recently, it has been suggested that IgG4-related disease represents a subset of cases previously diagnosed as idiopathic hypertrophic pachymeningitis. Little is known regarding the pathogenic events of IHP. In a general theory, the inflammatory infiltrate, mainly consisting of B and T lymphocytes, activates fibroblasts and induces collagen deposition, leading to tissue hypertrophy and increased dural thickness. Clinical manifestations of IHP depend upon the location of the inflammatory lesions and compression of the adjacent nervous structures. Three central pathological features are lymphoplasmacytic infiltration, obliterative phlebitis, and storiform fibrosis. MRI is the examination of choice for the preliminary diagnosis of IHP. Histopathological examination of a biopsy specimen of the dura mater would finally confirm the diagnosis. The differential diagnosis for HP is broad and includes infections, autoimmune disorders, and neoplasia. Currently, there is no consensus about treatment for patients with IHP. There is a preference for glucocorticoid treatment on diagnosis followed by the addition of other immunosuppressive agents in the event of a recurrence. Rituximab is used in patients who did not respond to glucocorticoids or to conventional steroid-sparing agents.

  8. Papillary muscle insertion directly into the anterior mitral leaflet in hypertrophic cardiomyopathy, its identification and cause of outflow obstruction by cardiac magnetic resonance imaging, and its surgical management.

    PubMed

    Rowin, Ethan J; Maron, Barry J; Lesser, John R; Rastegar, Hassan; Maron, Martin S

    2013-06-01

    This case presents an uncommon but important mechanism of muscular left ventricular outflow obstruction in hypertrophic cardiomyopathy due to anomalous and direct papillary muscle insertion into the anterior mitral leaflet, a finding reliably identified clinically by cardiac magnetic resonance imaging. The identification of this left ventricular outflow tract morphology is important before invasive ventricular septal reduction therapy because it dictates a specific surgical strategy. These findings further support the role of cardiac magnetic resonance imaging in the early evaluation of hypertrophic cardiomyopathy patients.

  9. Spontaneous resolution of an infantile hemangioma in a dorsal root ganglion.

    PubMed

    Hervey-Jumper, Shawn L; McKeever, Paul E; Gebarski, Stephen S; Muraszko, Karin M; Maher, Cormac O

    2011-12-01

    Infantile hemangiomas are tumors commonly seen in children. Few authors have reported infantile hemangiomas affecting the CNS, and there are no prior reports detailing spontaneous resolution of a histologically proven juvenile hemangioma within a dorsal root ganglion. The authors report the case of a newborn boy with a large cutaneous hemangioma in the midline of his back. Spinal MR images were obtained to rule out associated spinal cord tethering, and an intradural spinal lesion was unexpectedly discovered. Biopsy revealed an intradural infantile hemangioma within the dorsal root ganglion, and, based on this diagnosis, no resection was performed. Sixteen months following the biopsy, the cutaneous hemangioma had become involuted and the intradural hemangioma had completely resolved. The behavior of the intradural component in this case follows the natural history of many cutaneous infantile hemangiomas.

  10. Reduced Penetrance of PRRT2 Mutation in a Chinese Family With Infantile Convulsion and Choreoathetosis Syndrome.

    PubMed

    Zhang, L M; An, Y; Pan, G; Ding, Y F; Zhou, Y F; Yao, Y H; Wu, B L; Zhou, S Z

    2015-09-01

    Paroxysmal kinesigenic dyskinesia is a rare episodic movement disorder that can be isolated or associated with benign infantile seizures as part of choreoathetosis syndrome. Mutations in the PRRT2 gene have been recently identified as a cause of paroxysmal kinesigenic dyskinesia and infantile convulsion and choreoathetosis (ICCA). We reported a PRRT2 heterozygous mutation (c.604-607delTCAC, p.S202Hfs*25) in a 3-generation Chinese family with infantile convulsion and choreoathetosis and paroxysmal kinesigenic dyskinesia. The mutation was present in 5 family members, of which 4 were clinically affected and 1 was an obligate carrier with reduced penetrance of PRRT2. The affected carriers of this mutation presented with a similar type of infantile convulsion during early childhood and developed additional paroxysmal kinesigenic dyskinesia symptoms later in life. In addition, they all had a dramatic clinical response to oxcarbazepine/phenytoin therapy. Reduced penetrance of the PRRT2 mutation in this family could warrant genetic counseling.

  11. Adrenocorticotropic hormone versus prednisolone in the treatment of infantile spasms post vigabatrin failure.

    PubMed

    Jones, Kevin; Snead, O Carter; Boyd, Jennifer; Go, Cristina

    2015-04-01

    The Child Neurology Society/American Academy of Neurology practice parameter has recommended adrenocorticotropic hormone or vigabatrin in the short-term treatment of infantile spasms. When vigabatrin is unavailable or ineffective and adrenocorticotropic hormone is not a treatment option because of the prohibitive cost, other forms of corticosteroids have been considered in the treatment of infantile spasms. This retrospective study reviewed the Hospital for Sick Children's experience with the short-term effectiveness of prednisolone versus adrenocorticotropic hormone in patients with infantile spasms who have failed vigabatrin. The results showed that while adrenocorticotropic hormone was more likely to lead to short-term spasm freedom, there was no difference in the likelihood of longer-term spasm resolution without relapse. These findings can guide clinicians in the treatment of infantile spasms post vigabatrin failure.

  12. Topiramate and adrenocorticotropic hormone (ACTH) as initial treatment for infantile spasms.

    PubMed

    Peltzer, Bradley; Alonso, William D; Porter, Brenda E

    2009-04-01

    Historically, adrenocorticotropic hormone was used as a first-line treatment for infantile spasms; however, there has been increasing use of topiramate as initial therapy. Here, we report a retrospective study of adrenocorticotropic hormone (ACTH) and topiramate as initial treatment for infantile spasms. The neurology patient database at the Children's Hospital of Philadelphia was searched using the International Classification of Diseases, Ninth Revision code for infantile spasms, and 50 patients were randomly chosen for chart review. We identified 31 patients receiving either adrenocorticotropic hormone or topiramate monotherapy (adrenocorticotropic hormone n = 12, topiramate n = 19) as a first-line treatment for infantile spasms. A total of 26 patients were symptomatic and 5 cryptogenic. Six patients treated with adrenocorticotropic hormone had resolution of clinical spasms and hypsarrhythmia within a month, but 3 relapsed. Of the 19 patients treated with topiramate, 4 patients eventually, though over a period of 0, 1, 8, or 69 months, had resolution of spasms and hypsarrhythmia.

  13. Hypertrophic Cranial Pachymeningitis and Skull Base Osteomyelitis by Pseudomonas Aeruginosa: Case Report and Review of the Literature

    PubMed Central

    Caldas, Ana Rita; Brandao, Mariana; Paula, Filipe Seguro; Castro, Elsa; Farinha, Fatima; Marinho, Antonio

    2012-01-01

    Hypertrophic cranial pachymeningitis (HCP) is an uncommon disorder characterized by localized or diffuse thickening of the dura mater, and it usually presents with multiple cranial neurophaties. It has been associated with a variety of inflammatory, infectious, traumatic, toxic and neoplasic diseases, when no specific cause is found the process is called idiopathic. The infectious cases occur in patients under systemic immunosuppression, which have an evident contiguous source or those who have undergone neurosurgical procedures. We describe a case of a 62-year-old immunosuppressed woman with diabetes and rheumatoid arthritis, which had HCP and osteomyelitis of the skull base caused by pseudomonas aeruginosa, presenting with headache and diplopia. We believe this is the second documented case of pachymeningitis secondary to this microorganism. As a multifactorial disease, it is essencial to determine the specific causative agent of HCP before making treatment decisions, and great care is needed with immunocompromised patients. Keywords Pseudomonas aeruginosa; Hypertrophic pachymeningitis; Ophtalmoplegia, optical neuropathy; Osteomyelitis; Skull base PMID:22505989

  14. Ile90Met, a novel mutation in the cardiac troponin T gene for familial hypertrophic cardiomyopathy in a Chinese pedigree.

    PubMed

    Xu, Chao; Wei, Meng; Su, Bin; Hua, Xue-Wei; Zhang, Guo-Wei; Xue, Xiao-Pei; Pan, Cun-Ming; Liu, Rong; Sheng, Yan; Lu, Zhi-Gang; Jin, Li-Ren; Song, Huai-Dong

    2008-10-01

    To identify the disease-causing gene for a large multi-generational Chinese family affected by familial hypertrophic cardiomyopathy (FHCM), genome-wide screening was carried out in a Chinese family with FHCM using micro-satellite markers, and linkage analysis was performed using the MLINK program. The disease locus was mapped to 1q32 in this family. Screening for a mutation in the cardiac troponin T (cTnT) gene was performed by a PCR and sequencing was done with an ABI Prism 3700 sequencer. A novel C-->G transition located in the ninth exon of the cTnT gene, leading to a predicted amino acid residue change from Ile to Met at codon 90, was identified in all individuals with hypertrophic cardiomyopathy (HCM). The results presented here strongly suggest that Ile90Met, a novel mutation in the cTnT gene, is causative agent of HCM in this family.

  15. Changes of expression of stretch-activated potassium channel TREK-1 mRNA and protein in hypertrophic myocardium.

    PubMed

    Cheng, Longxian; Su, Fengcheng; Ripen, Nsenga; Fan, Hong; Huang, Kai; Wang, Min; Peng, Hongyu; Mei, Chunli; Zhao, Fang; Liao, Yuhua

    2006-01-01

    The expression of stretch-activated potassium channel TREK-1 mRNA and protein of hypertrophic myocardium was measured. Using a model of hypertrophy induced by coarctation of abdominal aorta in male Wistar rats, the expression of TREK-1 mRNA and protein was detected by using semi-quantitative RT PCR and Western blot respectively. At 4th and 8th week after constriction of the abdominal aorta, rats developed significant left ventricular hypertrophy. As compared to sham-operated group, stretch-activated potassium channel TREK-1 mRNA was strongly expressed and protein was up-regulated in operation groups (P < 0.05). It was concluded that the expression of TREK-1 was up-regulated in hypertrophic myocardium induced by chronic pressure overload in Wistar rats.

  16. Possible recruitment of osteoblastic precursor cells from hypertrophic chondrocytes during initial osteogenesis in cartilaginous limbs of young rats.

    PubMed

    Franzen, A; Oldberg, A; Solursh, M

    1989-08-01

    The appearance of the bone phenotype during rat embryogenesis was studied by in situ hybridization using a cDNA clone to osteopontin. Radiolabeled sense and antisense RNA probes were prepared from the osteopontin cDNA by in vitro transcription. The probes were used to hybridize paraffin sections of the cartilaginous diaphysis from embryonic rats at day 17 of gestation. The hybridization pattern was analyzed by autoradiography. Hybridization with the antisense probe gave patterns of silver grain labeling, indicating the presence of osteopontin mRNA among the hypertrophic chondrocytes. No silver grains could be detected in the corresponding region following hybridization of consecutive sections with the sense probe, showing the specificity of the technique being used. Whether these results indicate that the osteopontin gene is transiently expressed by hypertrophic chondrocytes or that osteopontin is an early marker for osteoblastic precursor cells will have to be explored further.

  17. Rare association of central pontine myelinolysis with infantile tremor syndrome

    PubMed Central

    Datta, Kalpana; Datta, Supratim; Dutta, Indranil

    2012-01-01

    Central pontine myelinolysis (CPM) is an acute demyelination within the central basis pontis. Though exact mechanism is not known it is seen commonly with rapid correction of hyponatremia and also with pontine ischemia or infarction, demyelinating diseases, pontine neoplasm and different metabolic diseases. We report a rare association of CPM in a patient of Infantile Tremor Syndrom (ITS). ITS is a syndrome of tremor, mental and physical retardation, pigmentary changes of hair and skin and anemia in malnourished children. Though first reported in Indian subcontinent many identical cases were reported from around the world. Our case is a 15 month old child with generalized tremor, mild hepatosplenomegaly with features of grade II malnutrition including skin and hair changes. All the signs and symtoms of tremor improved after treatment with the World Health Organization (WHO) protocol for protein energy malnutrition (PEM) and administration of propranolol without any side effects. PMID:22412274

  18. Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy.

    PubMed

    Horvath, Rita; Kemp, John P; Tuppen, Helen A L; Hudson, Gavin; Oldfors, Anders; Marie, Suely K N; Moslemi, Ali-Reza; Servidei, Serenella; Holme, Elisabeth; Shanske, Sara; Kollberg, Gittan; Jayakar, Parul; Pyle, Angela; Marks, Harold M; Holinski-Feder, Elke; Scavina, Mena; Walter, Maggie C; Coku, Jorida; Günther-Scholz, Andrea; Smith, Paul M; McFarland, Robert; Chrzanowska-Lightowlers, Zofia M A; Lightowlers, Robert N; Hirano, Michio; Lochmüller, Hanns; Taylor, Robert W; Chinnery, Patrick F; Tulinius, Mar; DiMauro, Salvatore

    2009-11-01

    Childhood-onset mitochondrial encephalomyopathies are usually severe, relentlessly progressive conditions that have a fatal outcome. However, a puzzling infantile disorder, long known as 'benign cytochrome c oxidase deficiency myopathy' is an exception because it shows spontaneous recovery if infants survive the first months of life. Current investigations cannot distinguish those with a good prognosis from those with terminal disease, making it very difficult to decide when to continue intensive supportive care. Here we define the principal molecular basis of the disorder by identifying a maternally inherited, homoplasmic m.14674T>C mt-tRNA(Glu) mutation in 17 patients from 12 families. Our results provide functional evidence for the pathogenicity of the mutation and show that tissue-specific mechanisms downstream of tRNA(Glu) may explain the spontaneous recovery. This study provides the rationale for a simple genetic test to identify infants with mitochondrial myopathy and good prognosis.

  19. [Infection by Toxoplasma gondii in children with infantile cerebral palsy].

    PubMed

    Tay, J; Gutiérrez Quiroz, M; Fernández Presas, A M; Romero Cabello, R; Ruiz González, L; Martínez Barbabosa, I

    1997-01-01

    An analytic relationship between positivity of the indirect immunofluorescent test (IIFT) for toxoplasmosis and clinical findings in a population of 328 children with cerebral infantile palsy (CIP) was performed. Children were distributed by age in one of four groups: I (0-2 years); II (3-6 years); III (7-12 years) and IV (13-18 years). One control group of 168 children with no PCI clinical findings was included. 125 sera were positive at 1:64 dilutions. The study of the binomial mother-child of 40 cases rendered 26 mothers with significant titer values. The majority of positive mothers to IIFT correlated with the youngest children (Groups I, II and III), mainly with group I (70.0%), which showed the highest titer ranges. Correlation between positive IIFT and clinical features was as high as 100.0%.

  20. Neonatal and infantile spinal sonography: A useful investigation often underutilized.

    PubMed

    Nair, Nikhil; Sreenivas, M; Gupta, Arun K; Kandasamy, Devasenathipathy; Jana, Manisha

    2016-01-01

    Sonography is an ideal, effective, noninvasive tool for evaluation of the spinal cord in neonatal and early infantile age groups owing to lack of ossification of the posterior elements of spine. Understanding normal anatomical appearances is a prerequisite for the interpretation of various pathologies of the spinal canal and its contents. This review elucidates normal appearances of the spinal cord in this age group, in both axial and sagittal planes. Usefulness of Doppler sonography is briefly discussed, and special emphasis is placed on normal anatomical variants that may mimic spinal abnormalities. Sonographic appearances of common intraspinal pathologies, both congenital and acquired, are exhaustively described. Key points regarding sonographic diagnosis of important spinal anomalies are emphasized and explained in detail. To conclude, spinal ultrasound is a reliable and widely available screening tool, albeit the usefulness of which is often underestimated.

  1. Neonatal and infantile spinal sonography: A useful investigation often underutilized

    PubMed Central

    Nair, Nikhil; Sreenivas, M; Gupta, Arun K; Kandasamy, Devasenathipathy; Jana, Manisha

    2016-01-01

    Sonography is an ideal, effective, noninvasive tool for evaluation of the spinal cord in neonatal and early infantile age groups owing to lack of ossification of the posterior elements of spine. Understanding normal anatomical appearances is a prerequisite for the interpretation of various pathologies of the spinal canal and its contents. This review elucidates normal appearances of the spinal cord in this age group, in both axial and sagittal planes. Usefulness of Doppler sonography is briefly discussed, and special emphasis is placed on normal anatomical variants that may mimic spinal abnormalities. Sonographic appearances of common intraspinal pathologies, both congenital and acquired, are exhaustively described. Key points regarding sonographic diagnosis of important spinal anomalies are emphasized and explained in detail. To conclude, spinal ultrasound is a reliable and widely available screening tool, albeit the usefulness of which is often underestimated. PMID:28104945

  2. Infantile tremor syndrome: Role of Vitamin B12 revisited

    PubMed Central

    Gupta, Rajesh; Mandliya, Jagdish; Sonker, Pavan; Patil, Vandana; Agrawal, Manish; Pathak, Ashish

    2016-01-01

    Objective: To study the role of Vitamin B12 as an etiological factor in patients of infantile tremor syndrome (ITS). Methods: Twelve consecutive admissions of children diagnosed clinically as ITS were assessed. Assessment was done using a predefined pro forma to document patient demographic factors, general examination, systemic examination as well as relevant hematological and biochemical investigations. Results: Out of the 12 cases of ITS, 6 were males and 6 were females. Two cases had serum B12 levels below reference values, five had levels in low normal range, and remaining five had normal values. Conclusions: Role of Vitamin B12 deficiency as an etiological factor in the patients of ITS is inconclusive. PMID:28217151

  3. Persistent neurogenic bladder dysfunction due to infantile botulism.

    PubMed

    Breinbjerg, Anders; Rittig, Søren; Kamperis, Konstantinos

    2014-01-13

    We present a child, 5 months of age, diagnosed with infantile botulism, showing the signs of neurogenic bladder dysfunction. The patient presented with progressive muscle weakness, hypotonia, suckling and swallowing problems and absent peripheral reflexes at clinical examination. Botulinum neurotoxin type A was detected in her serum, confirming the diagnosis. Starting at day 6, the girl presented with a urinary retention initially necessitating free bladder drainage and subsequently intermittent catheterisation. After 6 weeks in intensive care, the patient recovered but the bladder underactivity persisted. Four months following recovery, a urodynamic evaluation was performed, showing a near normal detrusor activity and normal bladder emptying, and the catheterisation was ceased. At 6 months, the girl was diagnosed with a urinary tract infection and bladder emptying problems, which persisted, and clean intermittent catheterisation was started. The final urodynamic evaluation, a year and a half after her initial presentation, revealed a normal detrusor activity and an adequate bladder emptying.

  4. Infantile-onset saccade initiation delay (congenital ocular motor apraxia).

    PubMed

    Salman, Michael S

    2015-05-01

    Infantile-onset saccade initiation delay, also known as congenital ocular motor apraxia, typically presents in early infancy with horizontal head thrusts once head control is achieved. Defective initiation of horizontal saccades and saccade hypometria with normal saccadic velocity are characteristic findings. Isolated impairment of vertical saccades is rare. Impaired smooth ocular pursuit may be seen. Other relatively common features include developmental delay, hypotonia, ataxia, or clumsiness. Brain MRI may be normal or show a diverse range of abnormalities, most commonly involving the cerebellum. Defective slow phases of the optokinetic response are commonly associated with brain MRI abnormalities. Isolated defect of vertical saccade initiation may indicate supratentorial brain abnormalities on MRI. Joubert syndrome, a developmental midbrain-hindbrain malformation, and ataxia telangiectasia are both commonly associated with defective volitional and reflexive saccade initiation, saccade hypometria, and head thrusts. Both horizontal and vertical saccades are impaired in these two disorders.

  5. Effectiveness of Mentha piperita in the Treatment of Infantile Colic: A Crossover Study.

    PubMed

    Alves, João Guilherme Bezerra; de Brito, Rita de Cássia Coelho Moraes; Cavalcanti, Telma Samila

    2012-01-01

    Background. Infantile colic is a distressing and common condition for which there is no proven standard treatment. Objective. To compare the efficacy of Mentha piperita with simethicone in treatment for infantile colic. Methods. A double-blind crossover study was performed with 30 infants attending IMIP, Recife, Brazil. They were randomized to use Mentha piperita or simethicone in the treatment of infantile colic during 7 days with each drug. Primary outcomes were mother_s opinion about responses to the treatment, number of daily episodes of colic, and time spent crying, measured by a chronometer. Mann-Whitney and chi-square tests were used to compare the results. This study was previously approved by the Ethical Committee in Research at IMIP. Results. At baseline daily episodes of infantile colic was 3.9 (±1.1) and the mean crying time per day was 192 minutes (±51.6). At the end of the study daily episodes of colic fell to 1.6 (±0.6) and the crying duration decreased to 111 (±28) minutes. All mothers reported decrease of frequency and duration of the episodes of infantile colic and there were no differences between responses to Mentha piperita and simethicone. Conclusions. These findings suggest that Mentha piperita may be used to help control infantile colic. However, these results must be repeated by others studies.

  6. Pathophysiology of infantile pulmonary arterial hypertension induced by monocrotaline.

    PubMed

    Dias-Neto, Marina; Luísa-Neves, Ana; Pinho, Sónia; Gonçalves, Nádia; Mendes, Maria; Eloy, Catarina; Lopes, José M; Gonçalves, Daniel; Ferreira-Pinto, Manuel; Leite-Moreira, Adelino F; Henriques-Coelho, Tiago

    2015-06-01

    Pediatric pulmonary arterial hypertension (PAH) presents certain specific features. In this specific age group, experimental models to study the pathophysiology of PAH are lacking. To characterize hemodynamic, morphometric, and histological progression as well as the expression of neurohumoral factors and regulators of cardiac transcription in an infantile model of PAH induced by monocrotaline (MCT), eight-day-old Wistar rats were randomly injected with MCT (30 mg/kg, sc, n = 95) or equal volume of saline solution (n = 92). Animals were instrumented for biventricular hemodynamic recording 7, 14, and 21 days after MCT, whereas samples were collected at 1, 3, 7, 14, and 21 days after MCT. Different time point postinjections were defined for further analysis. Hearts and lungs were collected for morphometric characterization, assessment of right- and left-ventricle (RV and LV) cardiomyocyte diameter and collagen type-I and type-III ratio, RV collagen volume fraction, and pulmonary vessels wall thickness. mRNA quantification was undertaken for brain natriuretic peptide (BNP), endothelin-1 (ET-1), and for cardiac transcription regulators (HOP and Islet1). Animals treated with MCT at the 8th day of life presented RV hypertrophy since day 14 after MCT injection. There were no differences on the RV collagen volume fraction or collagen type-I and type-III ratio. Pulmonary vascular remodelling and PAH were present on day 21, which were accompanied by an increased expression of BNP, ET-1, HOP, and Islet1. The infantile model of MCT-induced PAH can be useful for the study of its pathophysiology and to test new therapeutic targets in pediatric age group.

  7. Prognostic roles of tetrahydroxy bile acids in infantile intrahepatic cholestasis.

    PubMed

    Lee, Chee-Seng; Kimura, Akihiko; Wu, Jia-Feng; Ni, Yen-Hsuan; Hsu, Hong-Yuan; Chang, Mei-Hwei; Nittono, Hiroshi; Chen, Huey-Ling

    2017-03-01

    Tetrahydroxy bile acids (THBAs) are hydrophilic and are present at minimal or undetectable levels in healthy human adults, but are present at high levels in bile salt export pump (abcb11)-knockout mice. The roles of THBAs in human cholestatic diseases are unclear. We aimed to investigate the presence of THBAs in patients with infantile intrahepatic cholestasis and its correlation with outcome. Urinary bile acids (BAs) were analyzed by GC-MS. Data were compared between good (n = 21) (disease-free before 1 year old) and poor prognosis groups (n = 19). Good prognosis patients had a higher urinary THBA proportion than poor prognosis patients [25.89% (3.45-76.73%) vs. 1.93% (0.05-48.90%)]. A urinary THBA proportion >7.23% predicted good prognosis with high sensitivity (95.24%), specificity (84.21%), and area under the curve (0.91) (P < 0.0001). A THBA proportion 7.23% was an independent factor for decreased transplant-free survival (hazard ratio = 7.16, confidence interval: 1.24-41.31, P = 0.028). Patients with a confirmed ABCB11 or tight junction protein 2 gene mutation (n = 7) had a minimally detectable THBA proportion (0.23-2.99% of total BAs). Three patients with an ATP8B1 mutation had an elevated THBA proportion (7.51-37.26%). In conclusion, in addition to disease entity as a major determinant of outcome, a high THBA level was associated with good outcome in the infantile intrahepatic cholestasis patients.

  8. Obstetric hemorrhage in a case of hypertrophic obstructive cardiomyopathy with automatic implantable cardioverter defibrillator: Anaesthesia and intensive care management.

    PubMed

    Mishra, Sandeep Kumar; Bhat, Ravindra R; Kavitha, Jayaram; Kundra, Pankaj; Parida, Satyen

    2016-01-01

    The physiological changes occurring during pregnancy and labor may reveal or exacerbate the symptoms of hypertrophic obstructive cardiomyopathy (HOCM). The addition of obstetric hemorrhage to this presents a unique challenge to the anesthesiologists and intensivists managing these patients in the operation theatres and the Intensive Care Units. Here we present a case of HOCM with automatic implantable cardioverter defibrillator in situ and postpartum hemorrhagic shock.

  9. FGFR1 signaling in hypertrophic chondrocytes is attenuated by the Ras-GAP neurofibromin during endochondral bone formation

    PubMed Central

    Karolak, Matthew R.; Yang, Xiangli; Elefteriou, Florent

    2015-01-01

    Aberrant fibroblast growth factor receptor 3 (FGFR3) signaling disrupts chondrocyte proliferation and growth plate size and architecture, leading to various chondrodysplasias or bone overgrowth. These observations suggest that the duration, intensity and cellular context of FGFR signaling during growth plate chondrocyte maturation require tight, regulated control for proper bone elongation. However, the machinery fine-tuning FGFR signaling in chondrocytes is incompletely defined. We report here that neurofibromin, a Ras-GAP encoded by Nf1, has an overlapping expression pattern with FGFR1 and FGFR3 in prehypertrophic chondrocytes, and with FGFR1 in hypertrophic chondrocytes during endochondral ossification. Based on previous evidence that neurofibromin inhibits Ras-ERK signaling in chondrocytes and phenotypic analogies between mice with constitutive FGFR1 activation and Nf1 deficiency in Col2a1-positive chondrocytes, we asked whether neurofibromin is required to control FGFR1-Ras-ERK signaling in maturing chondrocytes in vivo. Genetic Nf1 ablation in Fgfr1-deficient chondrocytes reactivated Ras-ERK1/2 signaling in hypertrophic chondrocytes and reversed the expansion of the hypertrophic zone observed in mice lacking Fgfr1 in Col2a1-positive chondrocytes. Histomorphometric and gene expression analyses suggested that neurofibromin, by inhibiting Rankl expression, attenuates pro-osteoclastogenic FGFR1 signaling in hypertrophic chondrocytes. We also provide evidence suggesting that neurofibromin in prehypertrophic chondrocytes, downstream of FGFRs and via an indirect mechanism, is required for normal extension and organization of proliferative columns. Collectively, this study indicates that FGFR signaling provides an important input into the Ras-Raf-MEK-ERK1/2 signaling axis in chondrocytes, and that this input is differentially regulated during chondrocyte maturation by a complex intracellular machinery, of which neurofibromin is a critical component. PMID:25616962

  10. Collision in the inferior olive: hypertrophic olivary degeneration complicated by radiation necrosis in brainstem primitive neuroendocrine tumor.

    PubMed

    Litkowski, Patricia; Young, Robert J; Wolden, Suzanne L; Souweidane, Mark M; Haque, Sofia; Gilheeney, Stephen W

    2012-01-01

    Hypertrophic olivary degeneration (HOD) is caused by disruption of the triangle of Guillain and Mollaret. We describe a child with a primitive neuroendocrine tumor who developed an expansile nonenhancing lesion in the olive after surgery and radiation therapy. Diffusion tensor imaging and tractography showed disruption of the central tegmental tract consistent with HOD. Subsequent transient enhancement of the olive was consistent with early radiation injury. Knowledge of coexisting complications such as HOD and radiation injury is essential for proper management.

  11. Cell-Intrinsic Functional Effects of the α-Cardiac Myosin Arg-403-Gln Mutation in Familial Hypertrophic Cardiomyopathy

    PubMed Central

    Chuan, Peiying; Sivaramakrishnan, Sivaraj; Ashley, Euan A.; Spudich, James A.

    2012-01-01

    Human familial hypertrophic cardiomyopathy is the most common Mendelian cardiovascular disease worldwide. Among the most severe presentations of the disease are those in families heterozygous for the mutation R403Q in β-cardiac myosin. Mice heterozygous for this mutation in the α-cardiac myosin isoform display typical familial hypertrophic cardiomyopathy pathology. Here, we study cardiomyocytes from heterozygous 403/+ mice. The effects of the R403Q mutation on force-generating capabilities and dynamics of cardiomyocytes were investigated using a dual carbon nanofiber technique to measure single-cell parameters. We demonstrate the Frank-Starling effect at the single cardiomyocyte level by showing that cell stretch causes an increase in amplitude of contraction. Mutant 403/+ cardiomyocytes exhibit higher end-diastolic and end-systolic stiffness than +/+ cardiomyocytes, whereas active force generation capabilities remain unchanged. Additionally, 403/+ cardiomyocytes show slowed relaxation dynamics. These phenotypes are consistent with increased end-diastolic and end-systolic chamber elastance, as well as diastolic dysfunction seen at the level of the whole heart. Our results show that these functional effects of the R403Q mutation are cell-intrinsic, a property that may be a general phenomenon in familial hypertrophic cardiomyopathy. PMID:22735528

  12. Focal Adhesion Kinase-mediated Phosphorylation of Beclin1 Protein Suppresses Cardiomyocyte Autophagy and Initiates Hypertrophic Growth*♦

    PubMed Central

    Cheng, Zhaokang; Zhu, Qiang; Dee, Rachel; Opheim, Zachary; Mack, Christopher P.; Cyr, Douglas M.; Taylor, Joan M.

    2017-01-01

    Autophagy is an evolutionarily conserved intracellular degradation/recycling system that is essential for cellular homeostasis but is dysregulated in a number of diseases, including myocardial hypertrophy. Although it is clear that limiting or accelerating autophagic flux can result in pathological cardiac remodeling, the physiological signaling pathways that fine-tune cardiac autophagy are poorly understood. Herein, we demonstrated that stimulation of cardiomyocytes with phenylephrine (PE), a well known hypertrophic agonist, suppresses autophagy and that activation of focal adhesion kinase (FAK) is necessary for PE-stimulated autophagy suppression and subsequent initiation of hypertrophic growth. Mechanistically, we showed that FAK phosphorylates Beclin1, a core autophagy protein, on Tyr-233 and that this post-translational modification limits Beclin1 association with Atg14L and reduces Beclin1-dependent autophagosome formation. Remarkably, although ectopic expression of wild-type Beclin1 promoted cardiomyocyte atrophy, expression of a Y233E phosphomimetic variant of Beclin1 failed to affect cardiomyocyte size. Moreover, genetic depletion of Beclin1 attenuated PE-mediated/FAK-dependent initiation of myocyte hypertrophy in vivo. Collectively, these findings identify FAK as a novel negative regulator of Beclin1-mediated autophagy and indicate that this pathway can facilitate the promotion of compensatory hypertrophic growth. This novel mechanism to limit Beclin1 activity has important implications for treating a variety of pathologies associated with altered autophagic flux. PMID:27994061

  13. Behaviour of an artery enclosed within a normal or hypertrophic callus of a long-bone fracture.

    PubMed

    Komnenou, A T; Symeonides, P P; Dessiris, A K

    2000-07-01

    The behaviour of the brachial artery enclosed in a hypertrophic or a normal callus was investigated in experimentally produced fractures of the humerus in 22 dogs. The brachial artery was displaced in a bony groove created at the fractured ends of the bone. The fracture was immobilized with a metal plate and four screws. The progress of the callus formation was studied and the patency of the artery was evaluated. In 15 out of the 22 animals a medium-sized or hypertrophic callus had developed that engulfed the brachial artery without obstructing its lumen and blood flow. In five dogs the fracture site was infected and the resultant osteomyelitis obstructed the artery. In the remaining two dogs the arterial lumen was extremely narrowed, due to breaking of the plate and formation of pseudarthrosis in one and injury of the artery in the other. Unless complicated by infection resulting in vascular occlusion, callus at the fracture site may engulf an artery without interference in its patency and blood flow. The possible involvement of a functioning artery within a callus or a mass of heterotopic ossification (myositis ossificans) should be kept in mind during surgical treatment of old fractures, hypertrophic callus with pseudarthrosis or extensive heterotopic ossification.

  14. [IgG4-related disease that presented cranial, cervical, lumbar and sacral hypertrophic pachymeningitis associated with infundibulo-hypophysitis].

    PubMed

    Sakai, Toshiyuki; Kondo, Masahide; Yoshii, Shintaro; Tomimoto, Hidekazu

    2014-01-01

    We report a patient of 32-year-old female with central IgG4-related disease. She developed headache and visual disturbance. On examination, she revealed diabetes insipidus, retrobulbar neuritis, hyperreflexia and limb weakness. Her laboratory findings showed serum IgG4 elevation, pleocytosis and protein elevation in cerebrospinal fluid. Chest CT showed a nodular lesion in the S8 of the left lung. Cranial and spinal magnetic resonance images with gadolinium contrast material showed cranial, cervical and lumbosacral hypertrophic pachymeningitis associated with infundibulo-hypophysitis. Pathological findings of the left frontal dura mater revealed lymphoplasmacytic inflammatory cell infiltrate with dense fibrosis. IgG4 immunohistochemistry showed no IgG4 + plasma cells within the inflammatory infiltrate. During treatment with intravenous pulse methylprednisolone followed by oral prednisolone, she revealed recovery of visual acuity with improvement of hypertrophic pachymeningitis and normalization of serum IgG4. This is a first report of IgG4-related hypertrophic pachymeningitis which involved cranial, cervical and lumbosacral regions as well as infundibulo-hypophysitis in a young female.

  15. Species-specific differences in adaptive phenotypic plasticity in an ecologically relevant trophic trait: hypertrophic lips in Midas cichlid fishes.

    PubMed

    Machado-Schiaffino, Gonzalo; Henning, Frederico; Meyer, Axel

    2014-07-01

    The spectacular species richness of cichlids and their diversity in morphology, coloration, and behavior have made them an ideal model for the study of speciation and adaptive evolution. Hypertrophic lips evolved repeatedly and independently in African and Neotropical cichlid radiations. Cichlids with hypertrophic lips forage predominantly in rocky crevices and it has been hypothesized that mechanical stress caused by friction could result in larger lips through phenotypic plasticity. To test the influence of the environment on the size and development of lips, we conducted a series of breeding and feeding experiments on Midas cichlids. Full-sibs of Amphilophus labiatus (thick-lipped) and Amphilophus citrinellus (thin-lipped) each were split into a control group which was fed food from the water column and a treatment group whose food was fixed to substrates. We found strong evidence for phenotypic plasticity on lip area in the thick-lipped species, but not in the thin-lipped species. Intermediate phenotypic values were observed in hybrids from thick- and thin-lipped species reared under "control" conditions. Thus, both a genetic, but also a phenotypic plastic component is involved in the development of hypertrophic lips in Neotropical cichlids. Moreover, species-specific adaptive phenotypic plasticity was found, suggesting that plasticity is selected for in recent thick-lipped species.

  16. Phenotypes and PRRT2 mutations in Chinese families with benign familial infantile epilepsy and infantile convulsions with paroxysmal choreoathetosis

    PubMed Central

    2013-01-01

    Background Mutations in the PRRT2 gene have been identified as the major cause of benign familial infantile epilepsy (BFIE), paroxysmal kinesigenic dyskinesia (PKD) and infantile convulsions with paroxysmal choreoathetosis/dyskinesias (ICCA). Here, we analyzed the phenotypes and PRRT2 mutations in Chinese families with BFIE and ICCA. Methods Clinical data were collected from 22 families with BFIE and eight families with ICCA. PRRT2 mutations were screened using PCR and direct sequencing. Results Ninety-five family members were clinically affected in the 22 BFIE families. During follow-up, two probands had one seizure induced by diarrhea at the age of two years. Thirty-one family members were affected in the eight ICCA families, including 11 individuals with benign infantile epilepsy, nine with PKD, and 11 with benign infantile epilepsy followed by PKD. Two individuals in one ICCA family had PKD or ICCA co-existing with migraine. One affected member in another ICCA family had experienced a fever-induced seizure at 7 years old. PRRT2 mutations were detected in 13 of the 22 BFIE families. The mutation c.649_650insC (p.R217PfsX8) was found in nine families. The mutations c.649delC (p.R217EfsX12) and c.904_905insG (p.D302GfsX39) were identified in three families and one family, respectively. PRRT2 mutations were identified in all eight ICCA families, including c.649_650insC (p.R217PfsX8), c.649delC (p.R217EfsX12), c.514_517delTCTG (p.S172RfsX3) and c.1023A > T (X341C). c.1023A > T is a novel mutation predicted to elongate the C-terminus of the protein by 28 residues. Conclusions Our data demonstrated that PRRT2 is the major causative gene of BFIE and ICCA in Chinese families. Site c.649 is a mutation hotspot: c.649_650insC is the most common mutation, and c.649delC is the second most common mutation in Chinese families with BFIE and ICCA. As far as we know, c.1023A > T is the first reported mutation in exon 4 of PRRT2. c.649delC was previously reported in

  17. Comparative efficacy of intralesional verapamil hydrochloride and triamcinolone acetonide in hypertrophic scars and keloids.

    PubMed

    Ahuja, Rajeev B; Chatterjee, Pallab

    2014-06-01

    There is not much level 1 evidence based literature to guide management of hypertrophic scars and keloids despite an array of therapeutic modalities at disposal. Intralesional (i/l) triamcinolone injections have remained a gold standard in non surgical management. Sporadic reports on use of i/l verapamil suggest its efficacy. Since verapamil has not found sufficient mention as an effective alternative modality, it was decided to undertake a randomized study which could also address some additional clinical parameters. A randomized, parallel group and observer blinded comparison with 40 patients (48 scars) was carried out to compare the effects of i/l triamcinolone (T) (22 scars) and verapamil injections (V) (26 scars). 1.5 ml was the maximum indicative volume decided in the study protocol for both the drugs (triamcinolone @40 mg/ml and verapamil @ 2.5 mg/ml). Patients included were aged between 15-60 years with scars ranging between 0.5-5 cm (but total area roughly <6 cm(2)), and scars under 2 years duration. Patients with keloidal diathesis were excluded. Injections were scheduled every three weeks until complete flattening of the scar or eight sessions, which ever came earlier. No concomitant therapies like massage, silicone gel or pressure garments were used. Scar evaluation at each stage was done by serial photographic records as well as by Vancouver Scar Scale (VSS). Comparative survival analysis between the two drugs was done using Kaplan Meier curves, and VSS scores were analyzed using Wilcoxon test and log rank test. Mean zero VSS scores were achieved with treatments in respect of scar height (T-12 weeks, V-21 weeks), vascularity (T-15 weeks, V-18 weeks) and pliability (T-15 weeks, V-21 weeks). The improvement in scar vascularity and pliability kept pace with decrease in scar height, in both the groups. There was not much difference in the rate of change of scar pigmentation with either drug but almost 60% patients in both the groups regained normal

  18. Hypertrophic response to hemodynamic overload: role of load vs. renin-angiotensin system activation

    NASA Technical Reports Server (NTRS)

    Koide, M.; Carabello, B. A.; Conrad, C. C.; Buckley, J. M.; DeFreyte, G.; Barnes, M.; Tomanek, R. J.; Wei, C. C.; Dell'Italia, L. J.; Cooper, G. 4th; Zile, M. R.

    1999-01-01

    Myocardial hypertrophy is one of the basic mechanisms by which the heart compensates for hemodynamic overload. The mechanisms by which hemodynamic overload is transduced by the cardiac muscle cell and translated into cardiac hypertrophy are not completely understood. Candidates include activation of the renin-angiotensin system (RAS) and angiotensin II receptor (AT1) stimulation. In this study, we tested the hypothesis that load, independent of the RAS, is sufficient to stimulate cardiac growth. Four groups of cats were studied: 14 normal controls, 20 pulmonary artery-banded (PAB) cats, 7 PAB cats in whom the AT1 was concomitantly and continuously blocked with losartan, and 8 PAB cats in whom the angiotensin-converting enzyme (ACE) was concomitantly and continuously blocked with captopril. Losartan cats had at least a one-log order increase in the ED50 of the blood pressure response to angiotensin II infusion. Right ventricular (RV) hypertrophy was assessed using the RV mass-to-body weight ratio and ventricular cardiocyte size. RV hemodynamic overload was assessed by measuring RV systolic and diastolic pressures. Neither the extent of RV pressure overload nor RV hypertrophy that resulted from PAB was affected by AT1 blockade with losartan or ACE inhibition with captopril. RV systolic pressure was increased from 21 +/- 3 mmHg in normals to 68 +/- 4 mmHg in PAB, 65 +/- 5 mmHg in PAB plus losartan and 62 +/- 3 mmHg in PAB plus captopril. RV-to-body weight ratio increased from 0.52 +/- 0.04 g/kg in normals to 1.11 +/- 0.06 g/kg in PAB, 1.06 +/- 0.06 g/kg in PAB plus losartan and 1.06 +/- 0.06 g/kg in PAB plus captopril. Thus 1) pharmacological modulation of the RAS with losartan and captopril did not change the extent of the hemodynamic overload or the hypertrophic response induced by PAB; 2) neither RAS activation nor angiotensin II receptor stimulation is an obligatory and necessary component of the signaling pathway that acts as an intermediary coupling load to the

  19. Cell proliferation, extracellular matrix mineralization, and ovotransferrin transient expression during in vitro differentiation of chick hypertrophic chondrocytes into osteoblast-like cells

    PubMed Central

    1993-01-01

    Differentiation of hypertrophic chondrocytes toward an osteoblast-like phenotype occurs in vitro when cells are transferred to anchorage- dependent culture conditions in the presence of ascorbic acid (Descalzi Cancedda, F., C. Gentili, P. Manduca, and R. Cancedda. 1992. J. Cell Biol. 117:427-435). This process is enhanced by retinoic acid addition to the culture medium. Here we compare the growth of hypertrophic chondrocytes undergoing this differentiation process to the growth of hypertrophic chondrocytes maintained in suspension culture as such. The proliferation rate is significantly higher in the adherent hypertrophic chondrocytes differentiating to osteoblast-like cells. In cultures supplemented with retinoic acid the proliferation rate is further increased. In both cases cells stop proliferating when mineralization of the extracellular matrix begins. We also report on the ultrastructural organization of the osteoblast-like cell cultures and we show virtual identity with cultures of osteoblasts grown from bone chips. Cells are embedded in a dense meshwork of type I collagen fibers and mineral is observed in the extracellular matrix associated with collagen fibrils. Differentiating hypertrophic chondrocytes secrete large amounts of an 82-kD glycoprotein. The protein has been purified from conditioned medium and identified as ovotransferrin. It is transiently expressed during the in vitro differentiation of hypertrophic chondrocytes into osteoblast-like cells. In cultured hypertrophic chondrocytes treated with 500 nM retinoic acid, ovotransferrin is maximally expressed 3 d after retinoic acid addition, when the cartilage-bone-specific collagen shift occurs, and decays between the 5th and the 10th day, when cells have fully acquired the osteoblast-like phenotype. Similar results were obtained when retinoic acid was added to the culture at the 50 nM "physiological" concentration. Cells expressing ovotransferrin also coexpress ovotransferrin receptors. This

  20. Benign infantile convulsion as a diagnostic clue of paroxysmal kinesigenic dyskinesia: a case series

    PubMed Central

    2014-01-01

    Introduction Paroxysmal kinesigenic dyskinesia is characterized by sudden attacks of involuntary movements. It is often misdiagnosed clinically as psychogenic illness, which distresses the patients to a great extent. A correct diagnosis will improve the quality of life in patients with paroxysmal kinesigenic dyskinesia because treatment with low doses of anticonvulsants is effective for eliminating the clinical manifestations. Paroxysmal kinesigenic dyskinesia can occur independently of or concurrently with benign infantile convulsion. Identification of PRRT2 as the causative gene of benign infantile convulsion and paroxysmal kinesigenic dyskinesia allows genetic confirmation of the clinical diagnosis. Case presentation We describe the clinical features of a Japanese family with either paroxysmal kinesigenic dyskinesia or benign infantile convulsion. A PRRT2 missense mutation (c.981C > G, p.Ile327Met) was identified in two patients with benign infantile convulsion and three patients with paroxysmal kinesigenic dyskinesia as well as in two unaffected individuals. Allowing incomplete penetrance in the mutation carriers, this mutation co-segregated completely with the phenotype. The patients with paroxysmal kinesigenic dyskinesia had been misdiagnosed with psychogenic illness for many years. They were correctly diagnosed with paroxysmal kinesigenic dyskinesia when their children visited a pediatrician for benign infantile convulsion. Treatment with carbamazepine controlled their involuntary movements completely. Conclusions Paroxysmal kinesigenic dyskinesia is a treatable movement disorder that is often misdiagnosed clinically as psychogenic illness. It is important to note that two clinically distinct disorders, benign infantile convulsion and paroxysmal kinesigenic dyskinesia, are allelic conditions caused by PRRT2 mutations. Paroxysmal kinesigenic dyskinesia should be suspected in families with a child with benign infantile convulsion. PMID:24886244

  1. Hypertrophic chondrocytes can become osteoblasts and osteocytes in endochondral bone formation

    PubMed Central

    Yang, Liu; Tsang, Kwok Yeung; Tang, Hoi Ching; Chan, Danny; Cheah, Kathryn S. E.

    2014-01-01

    According to current dogma, chondrocytes and osteoblasts are considered independent lineages derived from a common osteochondroprogenitor. In endochondral bone formation, chondrocytes undergo a series of differentiation steps to form the growth plate, and it generally is accepted that death is the ultimate fate of terminally differentiated hypertrophic chondrocytes (HCs). Osteoblasts, accompanying vascular invasion, lay down endochondral bone to replace cartilage. However, whether an HC can become an osteoblast and contribute to the full osteogenic lineage has been the subject of a century-long debate. Here we use a cell-specific tamoxifen-inducible genetic recombination approach to track the fate of murine HCs and show that they can survive the cartilage-to-bone transition and become osteogenic cells in fetal and postnatal endochondral bones and persist into adulthood. This discovery of a chondrocyte-to-osteoblast lineage continuum revises concepts of the ontogeny of osteoblasts, with implications for the control of bone homeostasis and the interpretation of the underlying pathological bases of bone disorders. PMID:25092332

  2. Simultaneous deactivation of FAK and Src improves the pathology of hypertrophic scar

    PubMed Central

    Su, Linlin; Li, Xiaodong; Wu, Xue; Hui, Bo; Han, Shichao; Gao, Jianxin; Li, Yan; Shi, Jihong; Zhu, Huayu; Zhao, Bin; Hu, Dahai

    2016-01-01

    Hypertrophic scar (HS) is a serious fibrotic skin condition with currently no satisfactory therapy due to undefined molecular mechanism. FAK and Src are two important non-receptor tyrosine kinases that have been indicated in HS pathogenesis. Here we found both FAK and Src were activated in HS vs. normal skin (NS), NS fibroblasts treated with TGF-β1 also exhibited FAK/Src activation. Co-immunoprecipitation and dual-labelled immunofluorescence revealed an enhanced FAK-Src association and co-localization in HS vs. NS. To examine effects of FAK/Src activation and their interplay on HS pathogenesis, site-directed mutagenesis followed by gene overexpression was conducted. Results showed only simultaneous overexpression of non-phosphorylatable mutant FAK Y407F and phosphomimetic mutant Src Y529E remarkably down-regulated the expression of Col I, Col III and α-SMA in cultured HS fibroblasts, alleviated extracellular matrix deposition and made collagen fibers more orderly in HS tissue vs. the effect from single transfection with wild-type or mutational FAK/Src. Glabridin, a chemical found to block FAK-Src complex formation in cancers, exhibited therapeutic effects on HS pathology probably through co-deactivation of FAK/Src which further resulted in FAK-Src de-association. This study suggests FAK-Src complex could serve as a potential molecular target, and FAK/Src double deactivation might be a novel strategy for HS therapy. PMID:27181267

  3. In vitro study of ethosome penetration in human skin and hypertrophic scar tissue.

    PubMed

    Zhang, Zhen; Wo, Yan; Zhang, Yixin; Wang, Danru; He, Rong; Chen, Huijin; Cui, Daxiang

    2012-08-01

    The purpose of this study is to characterize a novel transdermal delivery carrier, ethosomes containing 5-fluorouracil. The delivery of drugs from ethosomes in human hypertrophic scar (HS) and the mechanisms of action of ethosomes in human HS were investigated. Percutaneous ethosome permeation was evaluated in vitro in human HS and skin using a Franz's cell. The amount of 5-fluorouracil that permeated HS and skin after 24 hours was most abundant in ethosomes via HS (E-Scar), followed by hydroethanolic solution via HS (H-Scar), ethosomes via skin (E-Skin), and hydroethanolic solution via skin (H-Skin). The penetration of ethosomes in HS and skin was analyzed by ethosomes fluorescently labeled with rhodamine 6GO using confocal laser scanning microscopy. The fluorescence intensity after application for 24 hours was highest in E-Scar, followed by E-Skin, H-Scar, and H-Skin, which indicates the penetration of ethosomes in HS was greatest. In conclusion, we consider that ethosomes are a highly efficient carrier in HS.

  4. Metabolic crosstalk between the heart and liver impacts familial hypertrophic cardiomyopathy.

    PubMed

    Magida, Jason A; Leinwand, Leslie A

    2014-04-01

    Familial hypertrophic cardiomyopathy (HCM) is largely caused by dominant mutations in genes encoding cardiac sarcomeric proteins, and it is etiologically distinct from secondary cardiomyopathies resulting from pressure/volume overload and neurohormonal or inflammatory stimuli. Here, we demonstrate that decreased left ventricular contractile function in male, but not female, HCM mice is associated with reduced fatty acid translocase (CD36) and AMP-activated protein kinase (AMPK) activity. As a result, the levels of myocardial ATP and triglyceride (TG) content are reduced, while the levels of oleic acid and TG in circulating very low density lipoproteins (VLDLs) and liver are increased. With time, these metabolic changes culminate in enhanced glucose production in male HCM mice. Remarkably, restoration of ventricular TG and ATP deficits via AMPK agonism as well as inhibition of gluconeogenesis improves ventricular architecture and function. These data underscore the importance of the systemic effects of a primary genetic heart disease to other organs and provide insight into potentially novel therapeutic interventions for HCM.

  5. Comparison of the hypertrophic effect of phorbol ester, norepinephrine, angiotensin II and contraction on cultured cardiomyocytes

    SciTech Connect

    Allo, S.N.; Carl, L.L.; Morgan, H.E. )

    1991-03-15

    Phorbol 12-myristate 13-acetate (PMA), norepinephrine (NE), angiotensin II (AII) and contraction stimulate cardiomyocyte growth. Differences exist in the time course and extent of protein and RNA accumulation. Cells plated at 4 {times} 10{sup 6} cells/60mm dish and arrested with 50 mM KCl demonstrated no significant growth. Treatment with PMA stimulated growth to a maximum of 17% at 48 h. In contrast, maximal stimulation of growth was 36% at 48 h and 31% at 72 h for contracting and NE treated cells, respectively. Maximal stimulation of the capacity for protein synthesis was 32% for PMA treated cells at 24 h as compared to 59% and 77% for NE treated and contracting cells respectively at 72 h. In support of a primary role for altered capacity in the regulation of protein synthesis, there was a significant correlation between RNA and protein content independent of the stimulus used. AII increased RNA content by 28% at 48h, but had no effect on growth up to 72h. Treatment with staurosporine blocked the stimulation of growth, suggestive of a role for protein kinase C (PKC). However, the inhibition of contraction-induced growth was due in part to a reduction in the rate of contraction. It was concluded that: significant differences existed in the time course of growth stimulation and RNA accumulation, depending on the stimulus; and growth inhibition by staurosporine is suggestive of an important role of PKC in hypertrophic growth induced by these stimuli.

  6. Phenotypes and echocardiographic characteristics of a European population of domestic shorthair cats with idiopathic hypertrophic cardiomyopathy.

    PubMed

    Brizard, D; Amberger, C; Hartnack, S; Doherr, M; Lombard, C

    2009-11-01

    111 Domestic Shorthair cats with idiopathic hypertrophic cardiomyopathy were reviewed retrospectively. Two-dimensional echocardiography was used to classify cases in 6 established phenotypes. Hypertrophy was diffuse in 61 % of cats and involved major portions of the ventricular septum and the left ventricular free wall (phenotype D). In the remaining cats, distribution of hypertrophy was more segmental and was identified on the papillary muscles exclusively (phenotype A, 6 %), on the anterior and basal portion of the ventricular septum (phenotype B, 12 %), on the entire septum (phenotype C, 14 %), or on the left ventricular free wall (phenotype E, 7 %). Echocardiographic characteristics and clinical findings were determined for each phenotype to study the correlation between distribution of hypertrophy and clinical implications. 31 cats demonstrated systolic anterior motion of the mitral valve, 75 % of them belonged to phenotype C of hypertrophy. Left ventricular-outflow turbulences were identified more frequently with patterns of hypertrophy involving the ventricular septum (65.5 %), while prevalence of mitral regurgitation was higher when hypertrophy included the papillary muscles (phenotypes A and E, 85 % and 87 %, respectively). Left atrial dilatation occurred more frequently when hypertrophy was diffuse or confined to the left ventricular free wall (61 % of cats with phenotype D or E) rather than to the ventricular septum (31 % of cats with phenotype B or C).

  7. Metastatic anal sac carcinoma with hypercalcaemia and associated hypertrophic osteopathy in a dog

    PubMed Central

    Giuliano, A.; Salgüero, R.; Dobson, J.

    2015-01-01

    A seven-year-old male neutered Irish setter was treated for a metastatic anal sac adenocarcinoma (ASAC) and hypercalcaemia by complete surgical excision of the primary tumour and partial excision of the sublumbar lymph nodes. Further enlargement of the sublumbar lymph nodes was linked to recurrent hypercalcaemia 3 months after surgical treatment. Medical treatment with Toceranib and Clodronate showed modest results in the treatment of the tumour and the hypercalcaemia. Radiotherapy of the sublumbar lymph nodes and later concurrent carboplatin chemotherapy resulted in partial tumour remission with marked reduction in size of the lymph nodes and normalization of the calcaemia. Unfortunately, concurrently with subsequent relapse of the hypercalaemia, the dog developed hypertrophic osteopathy (HO) and lumbar spinal metastasis and the dog was euthanized. To the authors’ knowledge, this is the second case of metastatic apocrine gland carcinoma of the anal sac associated with HO and the first case that describe the development of HO late in the stage of the disease. PMID:26623365

  8. Cardiotrophin-1 plasma levels are associated with the severity of hypertrophy in hypertrophic cardiomyopathy

    PubMed Central

    Monserrat, Lorenzo; López, Begoña; González, Arantxa; Hermida, Manuel; Fernández, Xusto; Ortiz, Martín; Barriales-Villa, Roberto; Castro-Beiras, Alfonso; Díez, Javier

    2011-01-01

    Aims Cardiotrophin-1 (CT-1) is a cytokine that induces hypertrophy in cardiomyocytes and is associated with left ventricular hypertrophy (LVH) in hypertensive patients. The objective of this study was to evaluate whether plasma CT-1 is associated with hypertrophic cardiomyopathy (HCM). Methods and results The study was performed in 124 patients with HCM. All patients underwent a full clinical evaluation and an echocardiogram. Left ventricular hypertrophy was evaluated by the measurement of the maximal LV wall thickness and the Spirito's LVH score. Plasma CT-1 was measured by an enzyme-linked immunosorbent assay. Compared with controls, patients with HCM exhibited higher (P < 0.001) plasma CT-1 levels. Significant correlations were found between CT-1 and maximal LV wall thickness (r = 0.284, P = 0.001) and the Spirito's LVH score (r = 0.287, P = 0.006) in HCM patients. In addition, the levels of CT-1 were higher (P = 0.02) in patients with severe LVH (maximal LV wall thickness ≥30 mm) than in patients with mild or moderate LVH (maximal LV wall thickness <30 mm). Conclusions These findings show that plasma CT-1 is associated with the severity of LVH in patients with HCM. Further studies are required to ascertain whether CT-1 is a diagnostic biomarker of this cardiomyopathy. PMID:21059734

  9. Multiple Sclerosis Presents with Psychotic Symptoms and Coexists with Hypertrophic Cardiomyopathy

    PubMed Central

    Özcan, Muhammed Emin; İnce, Bahri; Karadeli, Hasan Hüseyin; Asil, Talip

    2014-01-01

    Multiple sclerosis (MS) is a demyelinating disease of the central nervous system. Psychiatric symptoms are not infrequent during MS, yet onset of MS with psychosis is rarely encountered. A 27-year-old Caucasian male was admitted due to numbness in his right arm and difficulty in walking. His clinical and laboratorial exams lead to the MS diagnosis. Nine months earlier, he also developed psychotic disorder, not otherwise specified (PD-NOS). His sudden onset of PD-NOS, his rapid and complete response to antipsychotics, and a relatively short interval between psychiatric and neurological signs indicate a high likelihood that PD-NOS was a manifestation of underlying MS. He also suffers from hypertrophic obstructive cardiomyopathy (HOCM). The patient's neurological complaints were recovered with methylprednisolone (1 g/day, i.v.) given for five days. Glatiramer acetate (1 × 1 tb.s.c.) was prescribed for consolidation and, after nine months of his admission, the patient fully recovered from neurological and psychiatric complaints. Interestingly, very recent studies indicate specific alpha-actinin antibodies in MS and alpha-actinin mutations cause HOCM. Thus, concurrence of MS with HOCM can be even a new syndrome, if further genetic studies prove. PMID:25197588

  10. Renin-angiotensin system gene polymorphisms as potential modifiers of hypertrophic and dilated cardiomyopathy phenotypes.

    PubMed

    Rani, Bindu; Kumar, Amit; Bahl, Ajay; Sharma, Rajni; Prasad, Rishikesh; Khullar, Madhu

    2017-03-01

    The renin-angiotensin (RAS) pathway has an important role in the etiology of heart failure and given the importance of RAS as a therapeutic target in various cardiomyopathies, genetic polymorphisms in the RAS genes may modulate the risk and severity of disease in cardiomyopathy patients. In the present study, we examined the association of RAS pathway gene polymorphisms, angiotensin converting enzyme (ACE), angiotensinogen (AGT), and angiotensin receptor type 1 (AGTR1) with risk and disease severity in Asian Indian idiopathic cardiomyopathy patients. The case-control study was conducted in 400 cardiomyopathy patients diagnosed with HCM, DCM, or restrictive cardiomyopathy (RCM) and 235 healthy controls. Genotyping of patients and controls was done by PCR-RFLP assays. Left ventricular wall thickness and left ventricular ejection fraction were measured by means of M-mode echocardiography. We observed significantly higher prevalence of ACE DD and AGTR1 1166CC genotypes in hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM) patients. Also, 235TT genotype of AGT (M235T) was significantly associated with enhanced risk of the disease phenotype in HCM, DCM, and RCM.

  11. Decreased Exercise Capacity and Sleep-Disordered Breathing in Patients With Hypertrophic Cardiomyopathy

    PubMed Central

    Konecny, Tomas; Geske, Jeffrey B.; Ludka, Ondrej; Orban, Marek; Brady, Peter A.; Abudiab, Muaz M.; Albuquerque, Felipe N.; Placek, Alexander; Kara, Tomas; Sahakyan, Karine R.; Gersh, Bernard J.; Tajik, A. Jamil; Allison, Thomas G.; Ommen, Steve R.

    2015-01-01

    BACKGROUND: Mechanisms of decreased exercise capacity in patients with hypertrophic cardiomyopathy (HCM) are not well understood. Sleep-disordered breathing (SDB) is a highly prevalent but treatable disorder in patients with HCM. The role of comorbid SDB in the attenuated exercise capacity in HCM has not been studied previously. METHODS: Overnight oximetry, cardiopulmonary exercise testing, and echocardiographic studies were performed in consecutive patients with HCM seen at the Mayo Clinic. SDB was considered present if the oxygen desaturation index (number of ≥ 4% desaturations/h) was ≥ 10. Peak oxygen consumption (V.o2peak) (the most reproducible and prognostic measure of cardiovascular fitness) was then correlated with the presence and severity of SDB. RESULTS: A total of 198 patients with HCM were studied (age, 53 ± 16 years; 122 men), of whom 32% met the criteria for the SDB diagnosis. Patients with SDB had decreased V.o2peak compared with those without SDB (16 mL O2/kg/min vs 21 mL O2/kg/min, P < .001). SDB remained significantly associated with V.o2peak after accounting for confounding clinical variables (P < .001) including age, sex, BMI, atrial fibrillation, and coronary artery disease. CONCLUSIONS: In patients with HCM, the presence of SDB is associated with decreased V.o2peak. SDB may represent an important and potentially modifiable contributor to impaired exercise tolerance in this unique population. PMID:25633371

  12. Mutations in COA6 cause cytochrome c oxidase deficiency and neonatal hypertrophic cardiomyopathy.

    PubMed

    Baertling, Fabian; A M van den Brand, Mariel; Hertecant, Jozef L; Al-Shamsi, Aisha; P van den Heuvel, Lambert; Distelmaier, Felix; Mayatepek, Ertan; Smeitink, Jan A; Nijtmans, Leo G J; Rodenburg, Richard J T

    2015-01-01

    COA6/C1ORF31 is involved in cytochrome c oxidase (complex IV) biogenesis. We present a new pathogenic COA6 variant detected in a patient with neonatal hypertrophic cardiomyopathy and isolated complex IV deficiency. For the first time, clinical details about a COA6-deficient patient are given and patient fibroblasts are functionally characterized: COA6 protein is undetectable and steady-state levels of complex IV and several of its subunits are reduced. The monomeric COX1 assembly intermediate accumulates. Using pulse-chase experiments, we demonstrate an increased turnover of mitochondrial encoded complex IV subunits. Although monomeric complex IV is decreased in patient fibroblasts, the CI/CIII2 /CIVn -supercomplexes remain unaffected. Copper supplementation shows a partial rescue of complex IV deficiency in patient fibroblasts. We conclude that COA6 is required for complex IV subunit stability. Furthermore, the proposed role in the copper delivery pathway to complex IV subunits is substantiated and a therapeutic lead for COA6-deficient patients is provided.

  13. Tumour effect on arginine/ornithine metabolic relationship in hypertrophic mouse kidney.

    PubMed

    Manteuffel-Cymborowska, M; Chmurzyńska, W; Peska, M; Grzelakowska-Sztabert, B

    1997-03-01

    The presence of a tumour significantly changes nitrogen metabolism, including that of amino acids and polyamines, in host animals. In this study, we examine whether developing tumours affect the metabolic relationship of arginine and ornithine, precursors of polyamines, in the testosterone-induced hypertrophic mouse kidney model. Androgen-induced changes in the activity of enzymes involved with ornithine biosynthesis (arginase), its consumption (ornithine aminotransferase, OAT and ornithine decarboxylase, ODC) and the hypertrophy of host mouse kidney were not affected by the presence of an ascitic tumour (EAC) and only slightly by a mammary carcinoma (MaCa). The HPLC determined renal level of arginine and ornithine showed a striking homeostasis and was disturbed neither by testosterone nor EAC. The effect of MaCa and testosterone on the levels of both amino acids, although significant, was not very pronounced. Developing tumours, especially ascitic, altered the renal activity of OAT and ODC, but not of arginase, in testosterone-untreated mice. All examined tumours, EAC, L 1210 and MaCa actively metabolized arginine and ornithine. the tumour content of arginine which coincided with the activity of arginase, resulted in a marked increase of the ornithine/arginine ratio in tumours, when compared with kidneys. These results indicate that the androgen-induced anabolic response in mouse kidney is preserved, in spite of tumour requirements for essential metabolites.

  14. Alteration of Time Intervals in Patients With Hypertrophic Cardiomyopathy During an Exercise Echocardiography

    PubMed Central

    Zagatina, Angela; Zhuravskaya, Nadezhda; Tyurina, Tatyana V.

    2011-01-01

    Background Hypertrophic cardiomyopathy (HCM) is often associated with diastolic dysfunction. Theoretically, a more marked alteration of diastolic function is revealed during exercise. Methods and Results We studied 84 persons: 1) 25 patients with HCM, 2) 25 patients with essential arterial hypertension (AH) and 3) 34 healthy controls. Each person performed a treadmill echocardiography. Before and after work, the following parameters were measured: the time interval between the QRS complex and the onset of mitral early diastolic filling velocity (TE), the interval between the QRS complex and the onset of peak early tissue mitral annular velocity (Te’), the isovolumetric relaxation time over the difference of TE and Te’ ratio (IVRT/(TE-Te’)), and changes of the time parameters during the stress test. In comparison with hypertensive and control groups, HCM patients at rest showed a significantly longer TE (448 ± 55 vs. 423 ± 33 vs. 417 ± 24 ms, P < 0.04) and Te’ (446 ± 48 vs. 403 ± 44 vs. 416 ± 38 ms, P < 0.003). After stress the HCM group had a longer Te’ (355 ± 59 vs. 299 ± 40 vs. 292 ± 30 ms, P < 0.000004) and a higher IVRT/(TE-Te’) ratio (3.1 ± 1.5 vs. 0.9 ± 2.4 vs. 1.7 ± 1.2, P < 0.002). Conclusions HCM patients show an alteration in the time parameters not only compared to healthy persons but to hypertensive patients as well.

  15. Investigation of Pathogenic Genes in Chinese sporadic Hypertrophic Cardiomyopathy Patients by Whole Exome Sequencing

    PubMed Central

    Xu, Jing; Li, Zhongshan; Ren, Xianguo; Dong, Ming; Li, Jinxin; Shi, Xingjuan; Zhang, Yu; Xie, Wei; Sun, Zhongsheng; Liu, Xiangdong; Dai, Qiming

    2015-01-01

    Hypertrophic cardiomyopathy (HCM) is a cardiovascular disease with high heterogeneity. Limited knowledge concerning the genetic background of nearly 40% HCM cases indicates there is a clear need for further investigation to explore the genetic pathogenesis of the disease. In this study, we undertook a whole exome sequencing (WES) approach to identify novel candidate genes and mutations associated with HCM. The cohort consisted of 74 unrelated patients with sporadic HCM (sHCM) previously determined to be negative for mutations in eight sarcomere genes. The results showed that 7 of 74 patients (9.5%) had damaging mutations in 43 known HCM disease genes. Furthermore, after analysis combining the Transmission and De novo Association (TADA) program and the ToppGene program, 10 putative genes gained priority. A thorough review of public databases and related literature revealed that there is strong supporting evidence for most of the genes playing roles in various aspects of heart development. Findings from recent studies suggest that the putative and known disease genes converge on three functional pathways: sarcomere function, calcium signaling and metabolism pathway. This study illustrates the benefit of WES, in combination with rare variant analysis tools, in providing valuable insight into the genetic etiology of a heterogeneous sporadic disease. PMID:26573135

  16. Obtaining insurance after DNA diagnostics: a survey among hypertrophic cardiomyopathy mutation carriers.

    PubMed

    Christiaans, Imke; Kok, Tjitske M; van Langen, Irene M; Birnie, Erwin; Bonsel, Gouke J; Wilde, Arthur A M; Smets, Ellen M A

    2010-02-01

    Hypertrophic cardiomyopathy (HCM) is a common hereditary heart disease associated with increased mortality. Disclosure of DNA test results may have social implications such as low access to insurance. In The Netherlands, insurance companies are restricted in the use of genetic information of their clients by the Medical Examination Act. A cross-sectional survey was used to assess the frequency and type of problems encountered by HCM mutation carriers applying for insurance, and associations with carriers' characteristics. The response rate was 86% (228/264). A total of 66 carriers (29%) applied for insurance of whom 39 reported problems (59%) during an average follow-up of 3 years since the DNA test result. More problems were encountered by carriers with manifest disease (P<0.001) and carriers with symptoms of HCM (P=0.049). Carriers identified after predictive DNA testing less frequently experienced problems (P=0.002). Three carriers without manifest HCM reported problems (5% of applicants). Frequently reported problems were higher premium (72%), grant access to medical records (62%), and complete rejection (33%). In conclusion, HCM mutation carriers frequently encounter problems when applying for insurances, often in the case of manifest disease, but the risk assessment of insurance companies is largely justified. Still, 5% of carriers encounter potentially unjustified problems, indicating the necessity to monitor the application of the existing laws and regulations by insurance companies and to educate counselees on the implications of these laws and regulations.

  17. Hypertrophic pachymeningitis associated with cerebral spinal fluid hypovolemia as initial presentation of systemic lupus erythematous.

    PubMed

    Sanchez-Garcia, Me; Gomez-Delgado, F; Gomez-Garduño, A; Blanco-Molina, A; Puebla, Ra Fernandez de la

    2014-02-01

    We report a case of a 61-year-old man with thickening of the dura mater associated with the presence of subdural collections as a consequence of cerebral spinal fluid hypovolemia (CSFH) and hypertrophic pachymeningitis (HP) as presentation of systemic lupus erythematous (SLE). The patient complained about fatigue, musculoskeletal pain, headache and skin lesions. In the laboratory tests minimal normocytic anemia, mild leukopenia, polyclonal hypergammaglobulinemia and antinuclear antibodies (ANA), anti-double-stranded DNA antibodies (dsDNA), antibodies against extractable nuclear antigens (ENA) type SSA-Ro, anti-Smith antigen antibodies (anti-Sm) and anti-ribonucleoprotein antibodies (anti-RNP) were detected. Cranial magnetic resonance imaging (MRI), with and without gadolinium enhancement, revealed generalized thickening of the dura mater more severe at the right parieto-occipital lobes with the presence of subdural collections. The patient was diagnosed with SLE associated both with CSFH and HP. A conservative treatment with prednisone 60 mg daily, mycophenolate mofetil (MMF) 1 g daily and hydroxychloroquine 200 mg twice a day was started with significant clinical and radiological improvement (almost complete resolution of the subdural collections and clear decrease of meningeal thickness). The authors emphasize that HP associated with CSFH in the context of SLE is a rare entity, which makes this case unique.

  18. The Role of Cardiac MRI in the Diagnosis and Risk Stratification of Hypertrophic Cardiomyopathy

    PubMed Central

    Maron, Martin S

    2016-01-01

    Hypertrophic cardiomyopathy (HCM), the most common genetic cardiomyopathy, is a disease characterised by substantial heterogeneity. Although the majority of patients with HCM remain asymptomatic with near-normal longevity, a small, but important, subset remain at risk for a wide range of clinical outcomes including sudden death. Cardiovascular magnetic resonance (CMR), with its high spatial resolution and tomographic imaging capability, has emerged as an imaging modality particularly well suited to characterise the phenotypic expression of HCM. CMR helps in the diagnosis of HCM by identifying areas of hypertrophy not well visualised by echocardiography, providing more accurate wall thickness measurements and differentiating HCM from other causes of left ventricular (LV) hypertrophy. CMR has led to the identification of novel subgroups of patients with HCM, including those with LV apical aneurysms (a subgroup at increased risk for ventricular arrhythmias and thromboembolic stroke), as well as abnormalities that contribute to LV outflow obstruction. Additionally, contrast-enhanced CMR with late-gadolinium enhancement (LGE) has recognised patients with extensive LGE (≥15 % LV myocardium) as individuals who may be at increased risk of sudden death, independent of other high-risk features, with implications on management strategies including consideration for primary prevention implantable cardioverter defibrillator therapy. These observations justify an expanded role of CMR in the routine clinical assessment of patients with HCM. PMID:28116085

  19. High resolution melting: improvements in the genetic diagnosis of hypertrophic cardiomyopathy in a Portuguese cohort

    PubMed Central

    2012-01-01

    Background Hypertrophic Cardiomyopathy (HCM) is a complex myocardial disorder with a recognized genetic heterogeneity. The elevated number of genes and mutations involved in HCM limits a gene-based diagnosis that should be considered of most importance for basic research and clinical medicine. Methodology In this report, we evaluated High Resolution Melting (HRM) robustness, regarding HCM genetic testing, by means of analyzing 28 HCM-associated genes, including the most frequent 4 HCM-associated sarcomere genes, as well as 24 genes with lower reported HCM-phenotype association. We analyzed 80 Portuguese individuals with clinical phenotype of HCM allowing simultaneously a better characterization of this disease in the Portuguese population. Results HRM technology allowed us to identify 60 mutated alleles in 72 HCM patients: 49 missense mutations, 3 nonsense mutations, one 1-bp deletion, one 5-bp deletion, one in frame 3-bp deletion, one insertion/deletion, 3 splice mutations, one 5'UTR mutation in MYH7, MYBPC3, TNNT2, TNNI3, CSRP3, MYH6 and MYL2 genes. Significantly 22 are novel gene mutations. Conclusions HRM was proven to be a technique with high sensitivity and a low false positive ratio allowing a rapid, innovative and low cost genotyping of HCM. In a short return, HRM as a gene scanning technique could be a cost-effective gene-based diagnosis for an accurate HCM genetic diagnosis and hopefully providing new insights into genotype/phenotype correlations. PMID:22429680

  20. A Delta-Sarcoglycan Gene Polymorphism as a Risk Factor for Hypertrophic Cardiomyopathy

    PubMed Central

    Garrido-Garduño, Martín H.; Pérez-Martínez, Ramón A.; Ruiz, Victor M.; Herrera-Tepatlán, Esteban; Rodríguez-Cruz, Maricela; Jiménez-Vaca, Ana L.; Minauro-Sanmiguel, Fernando; Salamanca-Gómez, Fabio A.

    2012-01-01

    Background: The C allele of c.−94C>G polymorphism of the delta-sarcoglycan gene was associated as a risk factor for coronary spasm in Japanese patients with hypertrophic cardiomyopathy (HCM). Aim: We evaluated whether the c.−94C>G polymorphism can be a risk factor for HCM in Mexican patients. Methods: The polymorphism was genotyped and the risk was estimated in 35 HCM patients and 145 healthy unrelated individuals. Data of this polymorphism reported in Mexican Amerindian populations were included. Results: The C allele frequency in HCM patients was higher with an odds ratio (OR) of 2.37, and the risk for the CC genotype increased to 5.0. The analysis with Mexican Amerindian populations showed that the C allele frequency was significantly higher in HCM patients with an OR of 2.96 and for CC genotype the risk increased to 7.60. Conclusions: The C allele of the c.−94C>G polymorphism is a risk factor for HCM, which is increased by the Amerindian component and can play an important role in the etiology and progression of disease in Mexican patients. PMID:22524166

  1. Coronary flow reserve in hypertrophic cardiomyopathy: relation with microvascular dysfunction and pathophysiological characteristics.

    PubMed

    Kofflard, M J; Michels, M; Krams, R; Kliffen, M; Geleijnse, M L; Ten Cate, F J; Serruys, P W

    2007-01-01

    BACKGROUND.: The decrease in coronary flow reserve (CFR) in hypertrophic cardiomyopathy (HCM) predisposes to myocardial ischaemia, systolic dysfunction and cardiac death. In this study we investigate to which extent haemodynamic, echocardiographic, and histological parameters contribute to the reduction of CFR. METHODS.: In ten HCM patients (mean age 44+/-14 years) and eight heart transplant (HTX) patients (mean age 51+/-6 years) CFR was calculated in the left anterior descending coronary artery. In all subjects haemodynamic, echocardiographic and histological parameters were assessed. The relationship between these variables and CFR was determined using linear regression analysis. RESULTS.: CFR was reduced in HCM compared with HTX patients (1.6+/-0.7 vs. 2.7+/-0.8, p<0.01). An increase in septal thickness (p<0.005), indexed left ventricular (LV) mass (p<0.005), LV end-diastolic pressure (p<0.001), LV outflow tract gradient (p<0.05) and a decrease in arteriolar lumen size (p<0.05) were all related to a reduction in CFR. CONCLUSION.: In HCM patients haemodynamic (LV end-diastolic pressure, LV outflow tract gradient), echocardiographic (indexed LV mass) and histological (% luminal area of the arterioles) changes are responsible for a decrease in CFR. (Neth Heart J 2007;15:209-15.).

  2. Effect of Left Ventricular Outflow Tract Obstruction on Left Atrial Mechanics in Hypertrophic Cardiomyopathy

    PubMed Central

    Williams, Lynne K.; Chan, Raymond H.; Carasso, Shemy; Durand, Miranda; Misurka, Jimmy; Crean, Andrew M.; Ralph-Edwards, Anthony; Gruner, Christiane; Woo, Anna; Lesser, John R.; Maron, Barry J.; Maron, Martin S.; Rakowski, Harry

    2015-01-01

    Left atrial (LA) volumes are known to be increased in hypertrophic cardiomyopathy (HCM) and are a predictor of adverse outcome. In addition, LA function is impaired and is presumed to be due to left ventricular (LV) diastolic dysfunction as a result of hypertrophy and myocardial fibrosis. In the current study, we assess the incremental effect of outflow tract obstruction (and concomitant mitral regurgitation) on LA function as assessed by LA strain. Patients with HCM (50 obstructive, 50 nonobstructive) were compared to 50 normal controls. A subset of obstructive patients who had undergone septal myectomy was also studied. Utilising feature-tracking software applied to cardiovascular magnetic resonance images, LA volumes and functional parameters were calculated. LA volumes were significantly elevated and LA ejection fraction and strain were significantly reduced in patients with HCM compared with controls and were significantly more affected in patients with obstruction. LA volumes and function were significantly improved after septal myectomy. LVOT obstruction and mitral regurgitation appear to further impair LA mechanics. Septal myectomy results in a significant reduction in LA volumes, paralleled by an improvement in function. PMID:26788503

  3. Familial screening and genetic counselling in hypertrophic cardiomyopathy: the Rotterdam experience

    PubMed Central

    Michels, M.; Hoedemaekers, Y.M.; Kofflard, M.J.; Frohn-Mulder, I.; Dooijes, D.; Majoor-Krakauer, D.; Ten Cate, F.J.

    2007-01-01

    Hypertrophic cardiomyopathy (HCM) is a disease characterised by unexplained left ventricular hypertrophy (LVH) (i.e. LVH in the absence of another cardiac or systemic disease that could produce a similar degree of hypertrophy), electrical instability and sudden death (SD). Germline mutations in genes encoding for sarcomere proteins are found in more than half of the cases of unexplained LVH. The autosomal dominant inherited forms of HCM are characterised by incomplete penetrance and variability in clinical and echocardiographic features, prognosis and therapeutic modalities. The identification of the genetic defect in one of the HCM genes allows accurate presymptomatic detection of mutation carriers in a family. Cardiac evaluation of at-risk relatives enables early diagnosis and identification of those patients at high risk for SD, which can be the first manifestation of the disease in asymptomatic persons. In this article we present our experience with genetic testing and cardiac screening in our HCM population and give an overview of the current literature available on this subject. (Neth Heart J 2007;15:184-9.17612681) PMID:17612681

  4. Coronary flow reserve in hypertrophic cardiomyopathy: relation with microvascular dysfunction and pathophysiological characteristics

    PubMed Central

    Kofflard, M.J.; Michels, M.; Krams, R.; Kliffen, M.; Geleijnse, M.L.; Ten Cate, F.J.; Serruys, P.W.

    2007-01-01

    Background. The decrease in coronary flow reserve (CFR) in hypertrophic cardiomyopathy (HCM) predisposes to myocardial ischaemia, systolic dysfunction and cardiac death. In this study we investigate to which extent haemodynamic, echocardiographic, and histological parameters contribute to the reduction of CFR. Methods. In ten HCM patients (mean age 44±14 years) and eight heart transplant (HTX) patients (mean age 51±6 years) CFR was calculated in the left anterior descending coronary artery. In all subjects haemodynamic, echocardiographic and histological parameters were assessed. The relationship between these variables and CFR was determined using linear regression analysis. Results. CFR was reduced in HCM compared with HTX patients (1.6±0.7 vs. 2.7±0.8, p<0.01). An increase in septal thickness (p<0.005), indexed left ventricular (LV) mass (p<0.005), LV end-diastolic pressure (p<0.001), LV outflow tract gradient (p<0.05) and a decrease in arteriolar lumen size (p<0.05) were all related to a reduction in CFR. Conclusion. In HCM patients haemodynamic (LV end-diastolic pressure, LV outflow tract gradient), echocardiographic (indexed LV mass) and histological (% luminal area of the arterioles) changes are responsible for a decrease in CFR. (Neth Heart J 2007;15:209-15.17612685) PMID:17612685

  5. [Hypertrophic cardiomyopathy: a rare cause of vascular dementia. A case report].

    PubMed

    Ben Hamouda, Ibtissem; Tougourti, Mohamed Néjib; Hamza, Mohsen

    2002-07-01

    Herein, we report a case of a 51 year old man who experienced three ischemic cerebral infarcts in a time of few months. The patient consulted after the third accident. Neurological presentation included pseudobulbar syndrome with a mild cognitive deficit, aphasia, left hemiparesia, hemiasomatognosia and homonymous lateral hemianopsia. Cerebral tomodensitometry and magnetic resonance imaging evidenced large infarcts images involving right middle cerebral artery territory and bilateral borderline zones in the junction of the territories of the middle and posterior cerebral arteries. Ambulatory 24 hours ECG recording (Holter) revealed two hits of non-sustained ventricular tachycardia. Transoesophageal echocardiography conveyed to the diagnosis of hypertrophic cardiomyopathy and displayed the presence of a left auricular thrombus. Anticoagulant therapy and rehabilitation allowed a substantial recovering of the patient's cognitive functions and wasting of the intracardiac thrombus. The clinical features observed in our patient meet the recommended DSM IV diagnosis criteria of vascular dementia, an exceptional complication of HCM. The clinical findings, neuroimagery investigation results, and the chronological link between cerebral attacks and cognitive function deterioration argue for a demential syndrome of vascular origin resulting from multiple embolic infarcts involving medium sized arteries (multi-infarct dementia). The authors emphasize the rarity of such observation. HCM must be considered as a potential cause of embolic stroke and likewise a multi-infarct dementia.

  6. Effects of hypertrophic and dilated cardiomyopathy mutations on power output by human β-cardiac myosin.

    PubMed

    Spudich, James A; Aksel, Tural; Bartholomew, Sadie R; Nag, Suman; Kawana, Masataka; Yu, Elizabeth Choe; Sarkar, Saswata S; Sung, Jongmin; Sommese, Ruth F; Sutton, Shirley; Cho, Carol; Adhikari, Arjun S; Taylor, Rebecca; Liu, Chao; Trivedi, Darshan; Ruppel, Kathleen M

    2016-01-01

    Hypertrophic cardiomyopathy is the most frequently occurring inherited cardiovascular disease, with a prevalence of more than one in 500 individuals worldwide. Genetically acquired dilated cardiomyopathy is a related disease that is less prevalent. Both are caused by mutations in the genes encoding the fundamental force-generating protein machinery of the cardiac muscle sarcomere, including human β-cardiac myosin, the motor protein that powers ventricular contraction. Despite numerous studies, most performed with non-human or non-cardiac myosin, there is no clear consensus about the mechanism of action of these mutations on the function of human β-cardiac myosin. We are using a recombinantly expressed human β-cardiac myosin motor domain along with conventional and new methodologies to characterize the forces and velocities of the mutant myosins compared with wild type. Our studies are extending beyond myosin interactions with pure actin filaments to include the interaction of myosin with regulated actin filaments containing tropomyosin and troponin, the roles of regulatory light chain phosphorylation on the functions of the system, and the possible roles of myosin binding protein-C and titin, important regulatory components of both cardiac and skeletal muscles.

  7. Usefulness of Genetic Testing in Hypertrophic Cardiomyopathy: an Analysis Using Real-World Data.

    PubMed

    Alejandra Restrepo-Cordoba, M; Campuzano, Oscar; Ripoll-Vera, Tomás; Cobo-Marcos, Marta; Mademont-Soler, Irene; Gámez, José M; Dominguez, Fernando; Gonzalez-Lopez, Esther; Padron-Barthe, Laura; Lara-Pezzi, Enrique; Alonso-Pulpon, Luis; Brugada, Ramon; Garcia-Pavia, Pablo

    2017-02-01

    This study sought to determine the usefulness of genetic testing to predict evolution in hypertrophic cardiomyopathy (HCM) and to assess the role of genetic testing in clinical practice. Genetic results of 100 HCM patients tested for mutations in ≥10 HCM-causing genes were evaluated. Patients were classified as with poor (group A) or favourable (group B) clinical course. Forty-five pathogenic mutations (PM) were identified in 28 patients (56 %) from group A and in 23 (46 %) from group B (p = 0.317). Only 40 patients (40 %) exhibited PM that had been previously reported and only 15 (15 %) had PM reported in ≥10 individuals. PM associated with poor prognosis were identified in just five patients from group A (10 %). Genetic findings are not useful to predict prognosis in most HCM patients. By contrast, real-world data reinforce the usefulness of genetic testing to provide genetic counselling and to enable cascade genetic screening.

  8. Echocardiography as a Screening Test for Myocardial Scarring in Children with Hypertrophic Cardiomyopathy

    PubMed Central

    Nield, Lynne; Dragulescu, Andreea; Benson, Lee

    2016-01-01

    Introduction. Hypertrophic cardiomyopathy (HCM) is burdened with morbidity and mortality including tachyarrhythmias and sudden cardiac death. These complications are attributed in part to the formation of proarrhythmic scars in the myocardium. The presence of extensive LGE is a risk factor for adverse outcomes in HCM. Late gadolinium enhancement (LGE) cardiac magnetic resonance imaging (cMRI) is the standard for the noninvasive evaluation of myocardial scars. However, echocardiography represents an attractive screening tool for myocardial scarring. The aim of this study was to compare the suitability of echocardiography to detect myocardial scars to the standard of cMRI-LGE. Methods. The cMRI studies and echocardiograms from 56 consecutive children with HCM were independently evaluated for the presence of cMRI-LGE and echocardiographic evidence of scarring by expert readers. Results. Echocardiography had a high sensitivity (93%) and negative predictive value (94%) in comparison to LGE. The false positive rate was high, leading to a low specificity (37%) and a low positive predictive value (35%). Conclusions. Given the poor specificity and positive predictive value, echocardiography is not a suitable screening test for the presence of myocardial scarring in children with HCM. However, children without echocardiographic evidence of myocardial scarring may not need to undergo cardiac magnetic resonance imaging to “rule in” LGE. PMID:27974896

  9. Computational Modeling of Blood Flow and Valve Dynamics in Hearts with Hypertrophic Cardiomyopathy

    NASA Astrophysics Data System (ADS)

    Zheng, Xudong; Mittal, Rajat; Abraham, Theodore; Pinheiro, Aurelio

    2010-11-01

    Hypertrophic Cardiomyopathy (HCM) is a cardiovascular disease manifested by the thickening of the ventricular wall and often leads to a partial obstruction to the blood flow out of the left ventricle. HCM is recognized as one of the most common causes of sudden cardiac death in athletes. In a heart with HCM, the hypertrophy usually narrows the blood flow pathway to the aorta and produces a low pressure zone between the mitral valve and the hypertrophy during systole. This low pressure can suck the mitral valve leaflet back and completely block the blood flow into the aorta. In the current study, a sharp interface immersed boundary method flow solver is employed to study the hemodynamics and valve dynamics inside a heart with HCM. The three-dimensional motion and configuration of the left ventricle including mitral valve leaflets and aortic valves are reconstructed based on echo-cardio data sets. The mechanisms of aortic obstruction associated with HCM are investigated. The long term objective of this study is to develop a computational tool to aid in the assessment and surgical management of HCM.

  10. Hypertrophic cardiomyopathy: present and future, with translation into contemporary cardiovascular medicine.

    PubMed

    Maron, Barry J; Ommen, Steve R; Semsarian, Christopher; Spirito, Paolo; Olivotto, Iacopo; Maron, Martin S

    2014-07-08

    Hypertrophic cardiomyopathy (HCM) is a common inherited heart disease with diverse phenotypic and genetic expression, clinical presentation, and natural history. HCM has been recognized for 55 years, but recently substantial advances in diagnosis and treatment options have evolved, as well as increased recognition of the disease in clinical practice. Nevertheless, most genetically and clinically affected individuals probably remain undiagnosed, largely free from disease-related complications, although HCM may progress along 1 or more of its major disease pathways (i.e., arrhythmic sudden death risk; progressive heart failure [HF] due to dynamic left ventricular [LV] outflow obstruction or due to systolic dysfunction in the absence of obstruction; or atrial fibrillation with risk of stroke). Effective treatments are available for each adverse HCM complication, including implantable cardioverter-defibrillators (ICDs) for sudden death prevention, heart transplantation for end-stage failure, surgical myectomy (or selectively, alcohol septal ablation) to alleviate HF symptoms by abolishing outflow obstruction, and catheter-based procedures to control atrial fibrillation. These and other strategies have now resulted in a low disease-related mortality rate of <1%/year. Therefore, HCM has emerged from an era of misunderstanding, stigma, and pessimism, experiencing vast changes in its clinical profile, and acquiring an effective and diverse management armamentarium. These advances have changed its natural history, with prevention of sudden death and reversal of HF, thereby restoring quality of life with extended (if not normal) longevity for most patients, and transforming HCM into a contemporary treatable cardiovascular disease.

  11. Advances in the management of congenital and infantile cataract.

    PubMed

    Lloyd, I C; Ashworth, J; Biswas, S; Abadi, R V

    2007-10-01

    Congenital and infantile cataracts produce deprivation amblyopia and can thus cause lifelong visual impairment. Successful management is dependent on early diagnosis and referral for surgery when indicated. Accurate optical rehabilitation and postoperative supervision are essential.The timing of surgery and its relationship to the duration of deprivation is important. Unilateral congenital cataract surgery within 6 weeks of birth produces the best outcomes. The equivalent 'latent' period for bilateral visual deprivation may be longer at around 10 weeks. Visual deprivation has a significant impact on the development of fixation stability. Major form deprivation, even after early surgery, leads to nystagmus. This is mostly manifest latent nystagmus (MLN). The latent period for fixation stability may be as short as 3 weeks. Preoperative congenital nystagmus (CN) can convert to more benign MLN after surgery. Infantile IOL implantation is becoming increasingly accepted. A satisfactory long-term refractive result requires that allowance be made for childhood axial growth and myopic shift. In a series of 25 infants (33 eyes) implanted before 12 months of age, the mean myopic shift at 12 months was 4.83 D. This increased to 5.3 D in infants implanted before 10 weeks. The initial desired refractive outcome following IOL implantation is thus hypermetropia, with the degree dependent on the age of the child. Glaucoma or ocular hypertension is a common complication following paediatric cataract surgery. Microphthalmia and surgery in early infancy are risk factors. Tonometry results may be influenced by the increased corneal thickness seen in aphakic and pseudophakic children. The long-term prognosis of eyes with aphakic glaucoma is not necessarily poor but intraocular pressure control may require three or more medications. Surgical intervention appears to be necessary in over a quarter of eyes. Posterior capsule opacification (PCO) is common in infants undergoing primary lens

  12. YouTube videos as a teaching tool and patient resource for infantile spasms.

    PubMed

    Fat, Mary Jane Lim; Doja, Asif; Barrowman, Nick; Sell, Erick

    2011-07-01

    The purpose of this study was to assess YouTube videos for their efficacy as a patient resource for infantile spasms. Videos were searched using the terms infantile spasm, spasm, epileptic spasm, and West syndrome. The top 25 videos under each term were selected according to set criteria. Technical quality, diagnosis of infantile spasms, and suitability as a teaching resource were assessed by 2 neurologists using the Medical Video Rating Scale. There were 5858 videos found. Of the 100 top videos, 46% did not meet selection criteria. Mean rating for technical quality was 4.0 of 5 for rater 1 and 3.9 of 5 for rater 2. Raters found 60% and 64% of videos to accurately portray infantile spasms, respectively, with significant agreement (Cohen κ coefficient = 0.75, P < .001). Ten videos were considered excellent examples (grading of 5 of 5) by at least 1 rater. YouTube may be used as an excellent patient resource for infantile spasms if guided search practices are followed.

  13. The pigment epithelium-derived factor (PEDF): an important potential therapeutic agent for infantile hemangioma.

    PubMed

    Li, Ming; Chen, Yanru; Guo, Zhihui; Xie, Yide; Zhou, Yakuan; Jiang, Chenghong; Chen, Xiaosong

    2017-04-01

    In previous studies, the expression and the role of proangiogenic factors in infantile hemangiomas have been well studied. However, the role of angiogenic inhibitors has been revealed rarely. The expression of PEDF, as the strongest and safe endogenous inhibitor, is still unrecognized until the current study. In order to investigate the expression and significance of the pigment epithelium-derived factor (PEDF) in the proliferating and regressing phases of infantile hemangiomas, the expression of PEDF, VEGF, Ki-67, and CD34 protein in hemangioma tissues was examined with immunohistochemical polymer HRP method in 42 cases during the proliferative phase, 40 cases during the regressing phase, and 11 cases of non-involuting congenital hemangiomas (NICHs). Meanwhile, the mRNA expression of these factors was detected with quantitative realtime RT-PCR. We found the protein and mRNA expression of PEDF in regressing phase was significantly higher than those in proliferative phase and NICHs (P < 0.001), while the protein and mRNA expression of VEGF were much lower (P < 0.001). The microvessel density (MVD), Ki-67 changes, and the expression of PEDF and VEGF were found significantly correlated. These results indicated that the reduction of VEGF and increase in PEDF are causative to the evolution of infantile hemangioma. PEDF may play a key role in the spontaneous regression of infantile hemangioma and may become an important potential therapeutic agent for infantile hemangioma.

  14. The Controversial Role of Food Allergy in Infantile Colic: Evidence and Clinical Management

    PubMed Central

    Nocerino, Rita; Pezzella, Vincenza; Cosenza, Linda; Amoroso, Antonio; Di Scala, Carmen; Amato, Francesco; Iacono, Giuseppe; Berni Canani, Roberto

    2015-01-01

    Food allergies (FAs) are an increasing problem in Western countries, affecting up to 10% of young children. FAs are frequently associated with gastrointestinal manifestations. The role of FAs as a potential causative factor for infantile colic (IC) is still controversial. We report the most recent evidence on the pathogenesis, clinical and diagnostic aspects of FA-induced infantile colic (IC) and suggest a stepwise diagnostic approach. We selected articles on clinical and immunologic features, pathogenesis and management of FAs and IC from of 1981 to 2015. Original and review articles were identified through selective searches performed on PubMed, using the following terms: colic, infantile colic, food allergy and infantile colic, infantile colic treatment. The possible relationship between FAs and IC derives from the presence of dysmotility with visceral hypersensitivity and dysbiosis, demonstrated in both conditions, and the clinical response to dietary interventions. Unfortunately, the design of the studies, poor characterization of atopy and different dietary approaches limit the understanding of the importance of FAs in subjects with IC. The role of FAs in IC subjects without other symptoms of atopy remains controversial. However, where there is a suspicion of FAs, a short trial with an extensively hydrolyzed cow’s proteins formula or, if breast fed, with maternal elimination diet may be considered a reasonable option. PMID:25808260

  15. Ontogeny of memory: An update on 40 years of work on infantile amnesia.

    PubMed

    Madsen, Heather Bronwyn; Kim, Jee Hyun

    2016-02-01

    Given the profound influence that early life experiences can have upon psychosocial functioning later in life, it is intriguing that most adults fail to recall autobiographical events from their early childhood years. Infantile amnesia is the term used to describe this phenomenon of accelerated forgetting during infancy, and it is not unique to humans. Over the years, information garnered from animal studies has provided clues as to the neurobiological basis of infantile amnesia. The purpose of this review is to provide a neurobiological update on what we now know about infantile amnesia since the publication of Campbell and Spear's seminal review on the topic more than 40 years ago. We present evidence that infantile amnesia is unlikely to be explained by a unitary theory, with the protracted development of multiple brain regions and neurotransmitter systems important for learning and memory likely to be involved. The recent discovery that exposure to early life stress can alleviate infantile amnesia offers a potential explanation as to how early adversity can so profoundly affect mental health in adulthood, and understanding the neurobiological basis for this early transition may lead to the development of effective therapeutic interventions.

  16. Magnetic resonance imaging in infantile spasms: effects of hormonal therapy.

    PubMed

    Konishi, Y; Yasujima, M; Kuriyama, M; Konishi, K; Hayakawa, K; Fujii, Y; Ishii, Y; Sudo, M

    1992-01-01

    Magnetic resonance imaging (MRI) was performed on five patients with infantile spasms who were treated with relatively low doses of adrenocorticotrophic hormone (ACTH) to study the extent of brain shrinkage induced by ACTH therapy. MRI prior to ACTH therapy revealed periventricular hyperintensity (PVH) areas and poor myelination in four patients. In one case, MRI performed 2 days after initiation of ACTH therapy also showed PVH and poor myelination. Brain shrinkage was observed 2 weeks after initiation of ACTH therapy. The most impressive follow-up finding upon MRI was the decrease in PVH found in four patients. The differentiation between myelinated white matter and surrounding cortex became poorer in three cases. Cortical atrophy progressed in all patients but ventricular dilation progressed in only one patient. At the end of ACTH therapy, ventricular dilation progressed in all cases. These findings suggest that loss of water not only from periventricular white matter but also from cortex is the main etiological factor of brain shrinkage induced by ACTH.

  17. Treatment of an infantile acne with oral isotretinoin.

    PubMed

    Sarazin, F; Dompmartin, A; Nivot, S; Letessier, D; Leroy, D

    2004-01-01

    We report the case of a little girl who presented with a nodulocystic acne which had its onset at the age of 20 months. She had no clinical or biological features of endocrinopathy. The lesions did not respond to conventional antibiotics so she was started on oral isotretinoin. A seven-month treatment period was necessary to achieve remission. The onset of infantile acne is usually around 6 to 16 months and there is a male predominance. The onset is later in females. Oral erythromycin is the first line treatment when topical therapies are inefficacious. Some cystic lesions do not respond to oral antibiotics. In these cases, oral isotretinoin may be effective and the treatment is similar to that of an adult. Clinical and biological tolerance is good with no growth retardation. Lesions may relapse after the withdrawal of isotretinoin but they are less important and easily controlled with topical treatments. Isotretinoin can be used for nodulocystic acne to reduce the risk of scarring.

  18. Infantile seborrheic dermatitis: a pediatric Siddha medicine treatise.

    PubMed

    Thambyayah, Malinee; Amuthan, Arul

    2015-01-01

    Siddha medicine is one of the oldest (5000 years old) well-documented Indian traditional medicines, compared with Ayurveda, Unani, and traditional Chinese medicine, by way of keen observation and experimentation. It mentions 108 diseases that occur in childhood, which are further classified and described into various subtypes based on the clinical features and different stages of a particular disease. The authors translate the elegant and detailed description of one neonatal disorder, infantile seborrheic dermatitis (cradle cap), called kabaala kuttam (KK), described in 17 stanzas of four lines for each stanza from Tamil language script into English. There are five different types of cradle cap, including white type, dark black type, red type, weeping type, and toxic type. Four polyherbal formulations are described for external and oral administration, in which there is mention of 39 herbals and pure sulfur as ingredients. The safety and efficacy of these herbal products varies and has not been fully explored in infants, but may represent options for clinical development.

  19. Infantile malignant osteopetrosis: a rare cause of neonatal hypocalcemia.

    PubMed

    Engiz, Ozlem; Kara, Semra; Bagrul, Denizhan; Lahr, Georgia; Alioglu, Bulent; Arikan, Inci; Bilge, Yıldız Dallar

    2012-01-01

    Infantile malignant osteopetrosis (IMO; OMIM 259700) is a rare inherited bone disease characterized by reduced or dysregulated activity of osteoclasts, resulting in generalized osteosclerosis. The disease usually presents within the first few months of life with anemia, hepatosplenomegaly, frontal bossing, nystagmus, blindness, deafness, and bone fractures. Children with IMO are at risk of developing hypocalcemia, with attendant tetanic seizures. We report the case of a baby boy who presented with neonatal hypocalcemia. Skeletal radiographs demonstrated sclerotic bones and a dense base of the skull with typical "space alien" face confirming the diagnosis of IMO. Pancytopenia developed at 2 months of age. Visual evoked potential showed severe bilateral optic nerve damage. Genetic mutation study revealed a new mutation in exon 13 of the TCIRG1 gene. Neonatal hypocalcemia can occur as result of IMO, which is easily missed out by clinicians. This causes delay in establishing the diagnosis and starting necessary treatment. Therefore, osteopetrosis should be kept in mind as a rare cause of neonatal hypocalcemia.

  20. Contribution of Embodiment to Solving the Riddle of Infantile Amnesia

    PubMed Central

    Glenberg, Arthur M.; Hayes, Justin

    2016-01-01

    At least since the late nineteenth century, researchers have sought an explanation for infantile amnesia (IA)—the lack of autobiographical memories dating from early childhood—and childhood amnesia (CA), faster forgetting of events up until the age of about seven. Evidence suggests that IA occurs across altricial species, and a number of studies using animal models have converged on the hypothesis that maturation of the hippocampus is an important factor. But why does the hippocampus mature at one time and not another, and how does that maturation relate to memory? Our hypothesis is rooted in theories of embodied cognition, and it provides an explanation both for hippocampal development and the end of IA. Specifically, the onset of locomotion prompts the alignment of hippocampal place cells and grid cells to the environment, which in turn facilitates the ontogeny of long-term episodic memory and the end of IA. That is, because the animal can now reliably discriminate locations, location becomes a stable cue for memories. Furthermore, as the mode of human locomotion shifts from crawling to walking, there is an additional shift in the alignment of the hippocampus that marks the beginning of adult-like episodic memory and the end of CA. Finally, given a reduction in self-locomotion and exploration with aging, the hypothesis suggests a partial explanation for cognitive decline with aging. PMID:26834683

  1. Endoscopic goniotomy: a potential surgical procedure for primary infantile glaucoma

    NASA Astrophysics Data System (ADS)

    Joos, Karen M.; Alward, Wallace L. M.; Folberg, Robert

    1993-06-01

    Goniotomy is an effective treatment for primary infantile glaucoma. Unlike trabeculotomy, goniotomy facilitates the visualization of the trabecular meshwork and does not disturb the conjunctiva. Because a cloudy cornea may prevent a clear view of the anterior chamber angle through the operating microscope, we investigated whether an endoscope would improve visualization during goniotomy in pig cadaver eyes. We deepened the anterior chamber of each pig eye with viscoelastic material. A modified 23-gauge needle attached to an Olympus 0.8 mm diameter flexible fiberoptic endoscope entered the anterior chamber through a 3 mm limbal incision. The angle was clearly seen on a videoscreen as the needle approached and incised the trabecular pillars for 120 degree(s); the iris immediately fell back. Following the procedure, the eyes were fixed in formalin and sectioned for light microscopy, or fixed in 2% glutaraldehyde for scanning electron microscopy. Trabecular pillars were present from the iris root to Schwalbe's line in the untreated region of the anterior chamber angle. The treated area demonstrated incision of the trabecular pillars with opening of the underlying trabecular meshwork.

  2. [Three infants with constipation and muscular weakness: infantile botulism].

    PubMed

    Thomasse, Y; Arends, J P; van der Heide, P A; Smit, L M E; van Weerden, T W; Fock, J M

    2005-04-09

    Two previously healthy infants, a boy of 10 weeks and a girl of 4 months presented with apathy and muscle weakness. A third previously healthy child, a girl of 6 weeks old was admitted with respiratory insufficiency. None of the three had had a bowel movement for a number of days. After extensive investigations which revealed few abnormalities Clostridium botulinum toxin was obtained in serum from all three children. Type-B-toxin was shown in the faeces of the older girl and boy; both recovered quickly. The other girl had type-A toxin; she died. Two of the three children were given honey to comfort them. Infantile botulism must be considered in every infant with symptoms of constipation and hypotonia. The diagnosis can quickly be confirmed by electromyography with repetitive 50-Hz-stimulation. Honey is a well-known source of the C. botulinum spore and should not be given to children under the age of 12 months. These three children are the first cases to be described in the Netherlands.

  3. Epigenetic regulation of glucocorticoid receptor and infantile spasms.

    PubMed

    Yang, Guang; Zou, Li-Ping; Wang, Jing; Ding, Ying-Xue

    2011-02-01

    IS is one of the few seizure syndromes that can be alleviated by adrenocorticotropic hormone (ACTH) or glucocorticoids (GCs) that are considered effective drugs of choice. This indicates that, indeed, IS may be fundamentally different from most other seizure disorders owing to the dysregulation of the hypothalamic-hypophysial-adrenal axis. GCs have multiple critical effects on fetal development, especially in normal brain development. Most glucocorticoid effects are mediated by the glucocorticoid receptor (GR), a steroid-activated nuclear receptor that translocates to the nucleus upon binding to cortisol. In the nucleus, GR targets genes related to neuronal metabolism and plasticity. The GR has also been characterized as a critical checkpoint in the delicate hormonal control of energy homeostasis. Recent studies suggest a possible correlation between prenatal stress and the onset of infantile spasms. In this paper, we propose a hypothesis that connects the adverse events in early life with the onset of IS through methylation of the GR gene, which is an epigenetic mechanism.

  4. Intravenous pamidronate in the treatment of severe idiopathic infantile hypercalcemia.

    PubMed

    Skalova, Sylva; Cerna, Lucie; Bayer, Milan; Kutilek, Stepan; Konrad, Martin; Schlingmann, Karl-Peter

    2013-03-01

    Idiopathic infantile hypercalcemia (IIH) is a rare disorder caused by CYP24A1 loss-of-function mutation, resulting in impaired degradation of 1,25-dihydroxyvitamin D3. Pamidronate, an intravenously administered bisphosphonate, which is a potent inhibitor of bone resorption, has been reported only once for treatment IIH. We present a case of a previously healthy 5-month-old boy with IIH, where calcemia peaked to 5 mmol/L. Treatment with methylprednisone and furosemide had only minor effects; therefore, 2 intravenous infusions of pamidronate (0.6 mg/kg per dose) corrected the serum calcium level to 2.95 mmol/L. Furthermore, CYP24A1 homozygous mutation p.R396W (c.1186c>t) was identified in this patient, confirming the clinical diagnosis of IIH. In conclusion, IIH has a favorable outcome once properly detected and appropriately treated. Pamidronate has a beneficial effect in those patients with IIH where glucocorticoids and furosemide fail to meet the expectations.  

  5. Infantile onset diabetes mellitus in developing countries - India.

    PubMed

    Varadarajan, Poovazhagi

    2016-03-25

    Infantile onset diabetes mellitus (IODM) is an uncommon metabolic disorder in children. Infants with onset of diabetes mellitus (DM) at age less than one year are likely to have transient or permanent neonatal DM or rarely type 1 diabetes. Diabetes with onset below 6 mo is a heterogeneous disease caused by single gene mutations. Literature on IODM is scanty in India. Nearly 83% of IODM cases present with diabetic keto acidosis at the onset. Missed diagnosis was common in infants with diabetes (67%). Potassium channel mutation with sulphonylurea responsiveness is the common type in the non-syndromic IODM and Wolcott Rallison syndrome is the common type in syndromic diabetes. Developmental delay and seizures were the associated co-morbid states. Genetic diagnosis has made a phenomenal change in the management of IODM. Switching from subcutaneous insulin to oral hypoglycemic drugs is a major clinical breakthrough in the management of certain types of monogenic diabetes. Mortality in neonatal diabetes is 32.5% during follow-up from Indian studies. This article is a review of neonatal diabetes and available literature on IODM from India.

  6. Infantile onset diabetes mellitus in developing countries - India

    PubMed Central

    Varadarajan, Poovazhagi

    2016-01-01

    Infantile onset diabetes mellitus (IODM) is an uncommon metabolic disorder in children. Infants with onset of diabetes mellitus (DM) at age less than one year are likely to have transient or permanent neonatal DM or rarely type 1 diabetes. Diabetes with onset below 6 mo is a heterogeneous disease caused by single gene mutations. Literature on IODM is scanty in India. Nearly 83% of IODM cases present with diabetic keto acidosis at the onset. Missed diagnosis was common in infants with diabetes (67%). Potassium channel mutation with sulphonylurea responsiveness is the common type in the non-syndromic IODM and Wolcott Rallison syndrome is the common type in syndromic diabetes. Developmental delay and seizures were the associated co-morbid states. Genetic diagnosis has made a phenomenal change in the management of IODM. Switching from subcutaneous insulin to oral hypoglycemic drugs is a major clinical breakthrough in the management of certain types of monogenic diabetes. Mortality in neonatal diabetes is 32.5% during follow-up from Indian studies. This article is a review of neonatal diabetes and available literature on IODM from India. PMID:27022444

  7. Poliomyelitis and infantile paralysis: changes in host and virus.

    PubMed

    Wyatt, H V

    1993-01-01

    Death of motor neurones following invasion of the central nervous system by poliovirus may result in paralysis of specific muscles. Virulence may be tested by injection into monkeys by routes which bypass natural infection. Transmissibility is also very important, but cannot be measured, only inferred. An infection may lead to immunity or paralysis. In epidemics, the highest incidence among children 0-2 years was 2% and among those over 10 years was 25%: these figures fit a model of genetic susceptibility of homozygotes and heterozygotes with phenotypic susceptibility increasing with age. Hypogamma-globulinemics, some neonates and pregnant women are more susceptible than others. Intra-muscular injections may increase the risk of paralysis. Strenuous exercise and IM injections given when poliovirus has already reached the spinal cord can increase the severity of paralysis or convert a non-paralytic attack to paralysis. Although vaccines reduced polio in temperate countries, polio was thought to be no problem in the tropics. Since 1977 polio has been recognised as a massive problem in the third world: because it affects babies and very young children, it is properly infantile paralysis.

  8. Incidence and treatment of infantile haemangioma in preterm infants.

    PubMed

    Goelz, Rangmar; Poets, Christian F

    2015-01-01

    Infantile haemangioma (IH) are vascular tumours with a unique growth dynamic, mostly absent at birth, growth in the first months followed by involution over several years, often resulting in residual skin changes. Immune-histologically, IH cells are exclusively glucose transporter protein-1 positive.The incidence of IH is increasing with decreasing gestational age, from 1-4% in term infants to 23% in those of <1000 g birth weight, with a female and Caucasian predominance. Discovery of systemic and topical beta blockers as an effective treatment option resulted in a rapid shift away from systemic steroids towards these drugs. For preterm infants, however, data on efficacy, pharmacokinetics and long-term safety are sparse or absent. Topical treatment without systemic side effects like cryotherapy may thus be an attractive alternative at an early growth stage (<10 mm). Indications for treatment with beta blockers, mostly propranolol systemically and timolol maleat 0.5% topically, are currently extrapolated from studies in older infants. Both seem effective, but adverse effects on sleep, circulation and metabolism are well described for propranolol. Long-term outcome data for either drug are missing. In conclusion, evidence on optimal IH treatment in preterms is lacking despite their high incidence; pharmacokinetic and clinical studies are warranted.

  9. Oculomotor Neurocircuitry, a Structural Connectivity Study of Infantile Nystagmus Syndrome

    PubMed Central

    Kashou, Nasser H.; Zampini, Angelica R.

    2015-01-01

    Infantile Nystagmus Syndrome (INS) is one of the leading causes of significant vision loss in children and affects about 1 in 1000 to 6000 births. In the present study, we are the first to investigate the structural pathways of patients and controls using diffusion tensor imaging (DTI). Specifically, three female INS patients from the same family were scanned, two sisters and a mother. Six regions of interest (ROIs) were created manually to analyze the number of tracks. Additionally, three ROI masks were analyzed using TBSS (Tract-Based Spatial Statistics). The number of fiber tracks was reduced in INS subjects, compared to normal subjects, by 15.9%, 13.9%, 9.2%, 18.6%, 5.3%, and 2.5% for the pons, cerebellum (right and left), brainstem, cerebrum, and thalamus. Furthermore, TBSS results indicated that the fractional anisotropy (FA) values for the patients were lower in the superior ventral aspects of the pons of the brainstem than in those of the controls. We have identified some brain regions that may be actively involved in INS. These novel findings would be beneficial to the neuroimaging clinical and research community as they will give them new direction in further pursuing neurological studies related to oculomotor function and provide a rational approach to studying INS. PMID:25860806

  10. Quick Phases of Infantile Nystagmus Show the Saccadic Inhibition Effect

    PubMed Central

    Harrison, James J.; Sumner, Petroc; Dunn, Matt J.; Erichsen, Jonathan T.; Freeman, Tom C. A.

    2015-01-01

    Purpose. Infantile nystagmus (IN) is a pathological, involuntary oscillation of the eyes consisting of slow, drifting eye movements interspersed with rapid reorienting quick phases. The extent to which quick phases of IN are programmed similarly to saccadic eye movements remains unknown. We investigated whether IN quick phases exhibit ‘saccadic inhibition,' a phenomenon typically related to normal targeting saccades, in which the initiation of the eye movement is systematically delayed by task-irrelevant visual distractors. Methods. We recorded eye position from 10 observers with early-onset idiopathic nystagmus while task-irrelevant distractor stimuli were flashed along the top and bottom of a large screen at ±10° eccentricity. The latency distributions of quick phases were measured with respect to these distractor flashes. Two additional participants, one with possible albinism and one with fusion maldevelopment nystagmus syndrome, were also tested. Results. All observers showed that a distractor flash delayed the execution of quick phases that would otherwise have occurred approximately 100 ms later, exactly as in the standard saccadic inhibition effect. The delay did not appear to differ between the two main nystagmus types under investigation (idiopathic IN with unidirectional and bidirectional jerk). Conclusions. The presence of the saccadic inhibition effect in IN quick phases is consistent with the idea that quick phases and saccades share a common programming pathway. This could allow quick phases to take on flexible, goal-directed behavior, at odds with the view that IN quick phases are stereotyped, involuntary eye movements. PMID:25670485

  11. The Role of FRMD7 in Idiopathic Infantile Nystagmus.

    PubMed

    Watkins, Rachel J; Thomas, Mervyn G; Talbot, Chris J; Gottlob, Irene; Shackleton, Sue

    2012-01-01

    Idiopathic infantile nystagmus (IIN) is an inherited disorder in which the nystagmus arises independently of any other symptoms, leading to the speculation that the disorder represents a primary defect in the area of the brain responsible for ocular motor control. The inheritance patterns are heterogeneous, however the most common form is X-linked. FRMD7 resides at Xq26-27 and approximately 50% of X-linked IIN families map to this region. Currently 45 mutations within FRMD7 have been associated with IIN, confirming the importance of FRMD7 in the pathogenesis of the disease. Although mutations in FRMD7 are known to cause IIN, very little is known about the function of the protein. FRMD7 contains a conserved N-terminal FERM domain suggesting that it may provide a link between the plasma membrane and actin cytoskeleton. Limited studies together with the knowledge of the function of other FERM domain containing proteins, suggest that FRMD7 may play a role in membrane extension during neuronal development through remodeling of the actin cytoskeleton.

  12. The Role of FRMD7 in Idiopathic Infantile Nystagmus

    PubMed Central

    Watkins, Rachel J.; Thomas, Mervyn G.; Talbot, Chris J.; Gottlob, Irene; Shackleton, Sue

    2012-01-01

    Idiopathic infantile nystagmus (IIN) is an inherited disorder in which the nystagmus arises independently of any other symptoms, leading to the speculation that the disorder represents a primary defect in the area of the brain responsible for ocular motor control. The inheritance patterns are heterogeneous, however the most common form is X-linked. FRMD7 resides at Xq26-27 and approximately 50% of X-linked IIN families map to this region. Currently 45 mutations within FRMD7 have been associated with IIN, confirming the importance of FRMD7 in the pathogenesis of the disease. Although mutations in FRMD7 are known to cause IIN, very little is known about the function of the protein. FRMD7 contains a conserved N-terminal FERM domain suggesting that it may provide a link between the plasma membrane and actin cytoskeleton. Limited studies together with the knowledge of the function of other FERM domain containing proteins, suggest that FRMD7 may play a role in membrane extension during neuronal development through remodeling of the actin cytoskeleton. PMID:21904664

  13. Neurodevelopmental outcomes in children with Down syndrome and infantile spasms

    PubMed Central

    Tapp, Sarah; Anderson, Tovi; Visootsak, Jeannie

    2015-01-01

    Down syndrome (DS) is the most common genetic cause of intellectual disability in the United States. The prevalence of seizure in individuals with DS is 1–13%, and infantile spasm (IS) occurs in 6–32% of those with seizures. Since IS is relatively common in children with DS, it is important to understand the impact IS has on the neurodevelopmental outcomes in order to provide appropriate anticipatory guidance to help maximize the potential of these children. Our study is the first to compare the neurodevelopmental outcomes of children with DS and IS (DS + IS) to children with DS and no history of seizures (DS − IS). Using the Bayley Scales of Infant and Toddler Development III, we assessed the neurodevelopment of 29 subjects (eight DS + IS and 21 DS − IS). Neurodevelopmental outcome was poor in the DS + IS cohort, but the delay in treatment does not appear to contribute to any differences in their developmental scores. However, when compared to children with DS − IS, the DS + IS cohort scored approximately 20 points less in all domains including cognitive, motor, and language (P < 0.05). Our results indicate that IS may impact the neurodevelopmental outcomes of children with DS + IS; thus, it is important to provide ongoing developmental and educational assessments and potentially additional therapies for children with DS + IS. PMID:26523121

  14. Interplay between the E2F pathway and β-adrenergic signaling in the pathological hypertrophic response of myocardium.

    PubMed

    Major, Jennifer L; Salih, Maysoon; Tuana, Balwant S

    2015-07-01

    The E2F/Pocket protein (Rb) pathway regulates cell growth, differentiation, and death by modulating gene expression. We previously examined this pathway in the myocardium via manipulation of the unique E2F repressor, E2F6, which is believed to repress gene activity independently of Rb. Mice with targeted expression of E2F6 in postnatal myocardium developed dilated cardiomyopathy (DCM) without hypertrophic growth. We assessed the mechanisms of the apparent failure of compensatory hypertrophic growth as well as their response to the β-adrenergic agonist isoproterenol. As early as 2 weeks, E2F6 transgenic (Tg) mice present with dilated thinner left ventricles and significantly reduced ejection fraction and fractional shortening which persists at 6 weeks of age, but with no apparent increase in left ventricle weight: body weight (LVW:BW). E2F6-Tg mice treated with isoproterenol (6.1 mg/kg/day) show double the increase in LVW:BW than their Wt counterparts (32% vs 16%, p-value: 0.007). Western blot analysis revealed the activation of the adrenergic pathway in Tg heart tissue under basal conditions with ~2-fold increase in the level of β2-adrenergic receptors (p-value: 8.9E-05), protein kinase A catalytic subunit (PKA-C) (p-value: 0.0176), activated c-Src tyrosine-protein kinase (p-value: 0.0002), extracellular receptor kinase 2 (ERK2) (p-value: 0.0005), and induction of the anti-apoptotic protein Bcl2 (p-value 0. 0.00001). In contrast, a ~60% decrease in the cardiac growth regulator: AKT1 (p-value 0.0001) and a ~four fold increase in cyclic AMP dependent phosphodiesterase 4D (PDE4D), the negative regulator of PKA activity, were evident in the myocardium of E2F6-Tg mice. The expression of E2F3 was down-regulated by E2F6, but was restored by isoproterenol. Further, Rb expression was down-regulated in Tg mice in response to isoproterenol implying a net activation of the E2F pathway. Thus the unique regulation of E2F activity by E2F6 renders the myocardium hypersensitive

  15. MicroRNA transcriptome profiling in cardiac tissue of hypertrophic cardiomyopathy patients with MYBPC3 mutations.

    PubMed

    Kuster, Diederik W D; Mulders, Joyce; Ten Cate, Folkert J; Michels, Michelle; Dos Remedios, Cristobal G; da Costa Martins, Paula A; van der Velden, Jolanda; Oudejans, Cees B M

    2013-12-01

    Hypertrophic cardiomyopathy (HCM) is predominantly caused by mutations in genes encoding sarcomeric proteins. One of the most frequent affected genes is MYBPC3, which encodes the thick filament protein cardiac myosin binding protein C. Despite the prevalence of HCM, disease pathology and clinical outcome of sarcomeric mutations are largely unknown. We hypothesized that microRNAs (miRNAs) could play a role in the disease process. To determine which miRNAs were changed in expression, miRNA arrays were performed on heart tissue from HCM patients with a MYBPC3 mutation (n=6) and compared with hearts of non-failing donors (n=6). 532 out of 664 analyzed miRNAs were expressed in at least one heart sample. 13 miRNAs were differentially expressed in HCM compared with donors (at p<0.01, fold change ≥ 2). The genomic context of these differentially expressed miRNAs revealed that miR-204 (fold change 2.4 in HCM vs. donor) was located in an intron of the TRPM3 gene, encoding an aspecific cation channel involved in calcium entry. RT-PCR analysis revealed a trend towards TRPM3 upregulation in HCM compared with donor myocardium (fold change 2.3, p=0.078). In silico identification of mRNA targets of differentially expressed miRNAs showed a large proportion of genes involved in cardiac hypertrophy and cardiac beta-adrenergic receptor signaling and we showed reduced phosphorylation of cardiac troponin I in the HCM myocardium when compared with donor. HCM patients with MYBPC3 mutations have a specific miRNA expression profile. Downstream mRNA targets reveal possible involvement in cardiac signaling pathways.

  16. Delayed hypertrophic differentiation of epiphyseal chondrocytes contributes to failed secondary ossification in mucopolysaccharidosis VII dogs

    PubMed Central

    Peck, Sun H.; O'Donnell, Philip J.M.; Kang, Jennifer L.; Malhotra, Neil R.; Dodge, George R.; Pacifici, Maurizio; Shore, Eileen M.; Haskins, Mark E.; Smith, Lachlan J.

    2015-01-01

    Mucopolysaccharidosis (MPS) VII is a lysosomal storage disorder characterized by deficient β-glucuronidase activity, which leads to the accumulation of incompletely degraded glycosaminoglycans (GAGs). MPS VII patients present with severe skeletal abnormalities, which are particularly prevalent in the spine. Incomplete cartilage-to-bone conversion in MPS VII vertebrae during postnatal development is associated with progressive spinal deformity and spinal cord compression. The objectives of this study were to determine the earliest postnatal developmental stage at which vertebral bone disease manifests in MPS VII and to identify the underlying cellular basis of impaired cartilage-to-bone conversion, using the naturally-occurring canine model. Control and MPS VII dogs were euthanized at 9 and 14 days-of-age, and vertebral secondary ossification centers analyzed using micro-computed tomography, histology, qPCR, and protein immunoblotting. Imaging studies and mRNA analysis of bone formation markers established that secondary ossification commences between 9 and 14 days in control animals, but not in MPS VII animals. mRNA analysis of differentiation markers revealed that MPS VII epiphyseal chondrocytes are unable to successfully transition from proliferation to hypertrophy during this critical developmental window. Immunoblotting demonstrated abnormal persistence of Sox9 protein in MPS VII cells between 9 and 14 days-of-age, and biochemical assays revealed abnormally high intra and extracellular GAG content in MPS VII epiphyseal cartilage at as early as 9 days-of-age. In contrast, assessment of vertebral growth plates and primary ossification centers revealed no significant abnormalities at either age. The results of this study establish that failed vertebral bone formation in MPS VII can be traced to the failure of epiphyseal chondrocytes to undergo hypertrophic differentiation at the appropriate developmental stage, and suggest that aberrant processing of Sox9 protein

  17. Ski inhibits TGF-β/phospho-Smad3 signaling and accelerates hypertrophic differentiation in chondrocytes.

    PubMed

    Kim, Kyung-Ok; Sampson, Erik R; Maynard, Robert D; O'Keefe, Regis J; Chen, Di; Drissi, Hicham; Rosier, Randy N; Hilton, Matthew J; Zuscik, Michael J

    2012-06-01

    Since transforming growing factor-β (TGF-β)/Smad signaling inhibits chondrocyte maturation, endogenous negative regulators of TGF-β signaling are likely also important regulators of the chondrocyte differentiation process. One such negative regulator, Ski, is an oncoprotein that is known to inhibit TGF-β/Smad3 signaling via its interaction with phospho-Smad3 and recruitment of histone deacetylases (HDACs) to the DNA binding complex. Based on this, we hypothesized that Ski inhibits TGF-β signaling and accelerates maturation in chondrocytes via recruitment of HDACs to transcriptional complexes containing Smads. We tested this hypothesis in chick upper sternal chondrocytes (USCs), where gain and loss of Ski expression experiments were performed. Over-expression of Ski not only reversed the inhibitory effect of TGF-β on the expression of hypertrophic marker genes such as type X collagen (colX) and osteocalcin, it induced these genes basally as well. Conversely, knockdown of Ski by RNA interference led to a reduction of colX and osteocalcin expression under basal conditions. Furthermore, Ski blocked TGF-β induction of cyclinD1 and caused a basal up-regulation of Runx2, consistent with the observed acceleration of hypertrophy. Regarding mechanism, not only does Ski associate with phospho-Smad2 and 3, but its association with phospho-Smad3 is required for recruitment of HDAC4 and 5. Implicating this recruitment of HDACs in the phenotypic effects of Ski in chondrocytes, the HDAC inhibitor SAHA reversed the up-regulation of colX and osteocalcin in Ski over-expressing cells. These results suggest that inhibition of TGF-β signaling by Ski, which involves its association with phospho-Smad3 and recruitment of HDAC4 and 5, leads to accelerated chondrocyte differentiation.

  18. Insulin Exhibits an Antiproliferative and Hypertrophic Effect in First Trimester Human Extravillous Trophoblasts.

    PubMed

    Silva, Cláudia; Nunes, Catarina; Correia-Branco, Ana; Araújo, João R; Martel, Fátima

    2017-04-01

    Our aim was to investigate the effect of high levels of glucose, insulin, leptin, and tumor necrosis factor alpha, biomarkers of diabetes in pregnancy, in the process of placentation, using as a cell model a first trimester extravillous human trophoblast cell line (HTR8/SVneo cells). Exposure of HTR8/SVneo cells for 24 hours to either glucose (20 mmol/L) or leptin (25-100 ng/mL) did not cause significant changes in cell proliferation and viability. Tumor necrosis factor alpha (24 hours; 10-100 ng/L) caused a small decrease (10%) in cell proliferation and an increase (9%) in cell viability; however, both effects disappeared when exposure time was increased. Insulin (24 hours; 1-10 nmol/L) caused a concentration- and time-dependent decrease (10%-20%) in cell proliferation; the effect of insulin (10 nmol/L) was more pronounced after a 48 hours exposure (35%). In contrast, exposure to insulin (10 nmol/L; 48 hours) showed no significant effect on cell viability, apoptosis, and migration capacity. Insulin appears to cause hypertrophy of HTR8/SVneo cells as it reduces the cell mitotic index while increasing the culture protein content. The antiproliferative effect of insulin seems to involve activation of mammalian target of rapamycin, phosphoinositide 3-kinase, and p38 mitogen-activated protein kinase. Finally, simvastatin and the polyphenol quercetin potentiated the antiproliferative effect of insulin; on the contrary, the polyphenol resveratrol, the polyunsaturated fatty acids eicosapentaenoic and docosahexaenoic acids, and folic acid were not able to change it. In conclusion, we show that insulin has an antiproliferative and hypertrophic effect on a first trimester extravillous human trophoblast cell line. So insulin might affect the process of placentation.

  19. Perturbed Length–Dependent Activation in Human Hypertrophic Cardiomyopathy With Missense Sarcomeric Gene Mutations

    PubMed Central

    Sequeira, Vasco; Wijnker, Paul J.M.; Nijenkamp, Louise L.A.M.; Kuster, Diederik W.D.; Najafi, Aref; Witjas-Paalberends, E. Rosalie; Regan, Jessica A.; Boontje, Nicky; ten Cate, Folkert J.; Germans, Tjeerd; Carrier, Lucie; Sadayappan, Sakthivel; van Slegtenhorst, Marjon A.; Zaremba, Ruud; Foster, D. Brian; Murphy, Anne M.; Poggesi, Corrado; dos Remedios, Cris; Stienen, Ger J.M.; Ho, Carolyn Y.; Michels, Michelle; van der Velden, Jolanda

    2013-01-01

    Rationale High-myofilament Ca2+-sensitivity has been proposed as trigger of disease pathogenesis in familial hypertrophic cardiomyopathy (HCM) based on in vitro and transgenic mice studies. However, myofilament Ca2+-sensitivity depends on protein phosphorylation and muscle length, and at present, data in human are scarce. Objective To investigate whether high-myofilament Ca2+-sensitivity and perturbed length-dependent activation are characteristics for human HCM with mutations in thick- and thin-filament proteins. Methods and Results Cardiac samples from patients with HCM harboring mutations in genes encoding thick (MYH7, MYBPC3) and thin (TNNT2, TNNI3, TPM1) filament proteins were compared with sarcomere mutation-negative HCM and nonfailing donors. Cardiomyocyte force measurements showed higher myofilament Ca2+-sensitivity in all HCM samples and low phosphorylation of protein kinase A (PKA)-targets compared with donors. After exogenous PKA treatment, myofilament Ca2+-sensitivity was either similar (MYBPC3mut, TPM1mut, sarcomere mutation-negative HCM), higher (MYH7mut, TNNT2mut), or even significantly lower (TNNI3mut) compared with donors. Length-dependent activation was significantly smaller in all HCM than in donor samples. PKA treatment increased phosphorylation of PKA-targets in HCM myocardium and normalized length-dependent activation to donor values in sarcomere mutation-negative HCM and HCM with truncating MYBPC3 mutations, but not in HCM with missense mutations. Replacement of mutant by wild-type troponin in TNNT2mut and TNNI3mut corrected length-dependent activation to donor values. Conclusions High-myofilament Ca2+-sensitivity is a common characteristic of human HCM and partly reflects hypophosphorylation of PKA-targets compared with donors. Length-dependent sarcomere activation is perturbed by missense mutations, possibly via post-translational modifications other than PKA-hypophosphorylation or altered protein–protein interactions, and represents a

  20. Delayed hypertrophic differentiation of epiphyseal chondrocytes contributes to failed secondary ossification in mucopolysaccharidosis VII dogs.

    PubMed

    Peck, Sun H; O'Donnell, Philip J M; Kang, Jennifer L; Malhotra, Neil R; Dodge, George R; Pacifici, Maurizio; Shore, Eileen M; Haskins, Mark E; Smith, Lachlan J

    2015-11-01

    Mucopolysaccharidosis (MPS) VII is a lysosomal storage disorder characterized by deficient β-glucuronidase activity, which leads to the accumulation of incompletely degraded glycosaminoglycans (GAGs). MPS VII patients present with severe skeletal abnormalities, which are particularly prevalent in the spine. Incomplete cartilage-to-bone conversion in MPS VII vertebrae during postnatal development is associated with progressive spinal deformity and spinal cord compression. The objectives of this study were to determine the earliest postnatal developmental stage at which vertebral bone disease manifests in MPS VII and to identify the underlying cellular basis of impaired cartilage-to-bone conversion, using the naturally-occurring canine model. Control and MPS VII dogs were euthanized at 9 and 14 days-of-age, and vertebral secondary ossification centers analyzed using micro-computed tomography, histology, qPCR, and protein immunoblotting. Imaging studies and mRNA analysis of bone formation markers established that secondary ossification commences between 9 and 14 days in control animals, but not in MPS VII animals. mRNA analysis of differentiation markers revealed that MPS VII epiphyseal chondrocytes are unable to successfully transition from proliferation to hypertrophy during this critical developmental window. Immunoblotting demonstrated abnormal persistence of Sox9 protein in MPS VII cells between 9 and 14 days-of-age, and biochemical assays revealed abnormally high intra and extracellular GAG content in MPS VII epiphyseal cartilage at as early as 9 days-of-age. In contrast, assessment of vertebral growth plates and primary ossification centers revealed no significant abnormalities at either age. The results of this study establish that failed vertebral bone formation in MPS VII can be traced to the failure of epiphyseal chondrocytes to undergo hypertrophic differentiation at the appropriate developmental stage, and suggest that aberrant processing of Sox9 protein