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Sample records for infantile hypertrophic pyloric

  1. The epidemiology of infantile hypertrophic pyloric stenosis.

    PubMed

    Schechter, R; Torfs, C P; Bateson, T F

    1997-10-01

    Infants with infantile hypertrophic pyloric stenosis (IHPS) born from 1983 to 1988 and recorded in the California Birth Defects Monitoring Program (CBDMP) database were compared with their birth cohort by demographic characteristics and selected associated birth defects. We identified 1963 cases of IHPS for a cumulative incidence of 1.9 per 1000 livebirths. The cumulative incidence per 1000 livebirths was 2.4 in White, 1.8 in Hispanic, 0.7 in Black, and 0.6 in Asian infants. Between weeks 3-12 after birth, 1871 (95%) IHPS cases were diagnosed. Premature infants were diagnosed with IHPS later than term or post-term infants. The incidence of IHPS declined for those born to maternal age groups of > or = 25 years and, independently, for successive birth ranks. The probandwise concordance rate for IHPS in monozygous twins was less than unity (0.25-0.44), although higher than the concordance for dizygous twins (0.05-0.10). The incidence of Smith-Lemli-Opitz syndrome (SLO) diagnosed in infants with IHPS (3 of 1963) was 157-fold higher than the incidence of SLO diagnosed in the CBDMP population. IHPS occurs in all of the largest racial and ethnic groups in California, most frequently in White and Hispanic infants. Pyloric stenosis presents only within a brief phase of development, which may be delayed in premature infants. A predominant discordance of disease state in monozygous twins implies an aetiological role for undetermined environmental factors. The association between SLO, caused by deficient cholesterol synthesis, and IHPS deserves additional study. Infants with suspected SLO require close observation for the onset of IHPS.

  2. Infantile hypertrophic pyloric stenosis in Belfast, 1957-1969.

    PubMed Central

    Dodge, J A

    1975-01-01

    Infants with hypertrophic pyloric stenosis born in Belfast during the 13 years 1957-1969 have been reviewed. Their distribution shows a bias towards higher social classes, breast feeding, and primogeniture. Obstetric factors and parental ages seem to be of no importance. More affected infants were born during winter months than would be expected. The overall incidence of infantile pyloric stenosis in this community has fallen during the period under review. Clinically, the patients started vomiting at a mean age of 22 days and it is recommended that the condition should not be called 'congenital'. The size of the tumour is mainly determined by the size of the patient, rather than by his age or duration of symptoms. Attention is drawn to the occurrence of haematemesis in 17-5% and melaena in 2-9% of infants. Jaundice occurred in 1-8% of patients in this series, and is attributed to the adverse effect of starvation on hepatic glucuronyl transferase activity. Other conditions noted in these patients included inguinal hernia, partial thoracic stomach, and phenylketonuria. Subsequent growth and development were in the anticipated range. PMID:1170811

  3. Hypertrophic Pyloric Stenosis developing In a Patient Operated for Patent Urachus – A Case Report

    PubMed Central

    Jangid, Manoj Kumar; Yadav, Sunil Kumar; Taqi, Esmaeel

    2014-01-01

    A neonate with patent urachus (PU) who later developed hypertrophic pyloric stenosis (HPS) is being reported. The newborn was first operated for PU; post-operatively he developed persistent vomiting and radiological workup confirmed HPS. Pyloromyotomy was performed with an uneventful recovery. PMID:25057473

  4. Late-onset hypertrophic pyloric stenosis with gastric outlet obstruction: case report and review of the literature.

    PubMed

    Wolf, Lindsey L; Nijagal, Amar; Flores, Alejandro; Buchmiller, Terry L

    2016-10-01

    We report late-onset hypertrophic pyloric stenosis in a 17-year-old female. She presented with abdominal pain and an episode of upper gastrointestinal hemorrhage and subsequently developed gastric outlet obstruction. Work-up revealed circumferential pyloric thickening, delayed gastric emptying, and a stenotic, elongated pyloric channel. Biopsies showed benign gastropathy, negative for Helicobacter pylori, without eosinophilic infiltrates. Botulinum toxin injection provided limited relief. Diagnostic laparoscopy confirmed the hypertrophic pylorus and we performed laparoscopic pyloromyotomy. The patient tolerated the procedure well and had complete symptom resolution at 1-year follow-up. Hypertrophic pyloric stenosis is a rare cause of gastric outlet obstruction in adolescents and may be managed successfully with laparoscopic pyloromyotomy. PMID:27506212

  5. 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

  6. Infantile hypertrophic pyloric stenosis with unusual presentations in Sagamu, Nigeria: a case report and review of the literature.

    PubMed

    Ogunlesi, Tinuade Adetutu; Kuponiyi, Opeyemi Temitola; Nwokoro, Collins Chigbundu; Ogundele, Ibukunolu Olufemi; Abe, Gbenga Fakunle; Ogunfowora, Olusoga Babatunde

    2016-01-01

    A 24-day old female Nigerian neonate presented with protracted vomiting, fever and dehydration but without palpable abdominal tumour or visible gastric peristalsis. There was no derangement of serum electrolytes. The initial working diagnosis was Late-Onset Sepsis but abdominal ultrasonography showed features consistent with the diagnosis of IHPS. This case report highlights the atypical presentation of this surgical condition and the need to investigate cases of protracted vomiting in the newborn with at least, ultrasonography to minimize complications and reduce the risk of mortality in a resource-poor setting. PMID:27642452

  7. [The sonographic diagnosis of hypertrophic stenosis of the pylorus].

    PubMed

    Rodríguez, R I; Briceño de Rodríguez, J A; Urrutia, M

    1993-09-01

    The clinical records of 18 children were studied, between 15 and 60 days old. They were hospitalized due to vomiting and diagnosis of suspected pyloric hypertrophic stenosis (PHS). The sonography confirmed the diagnosis in 8 children, by the thickening of the muscular layer and enlargement of the pyloric canal. The surgery (pyloromyotomy) ratified the diagnosis in all 8 children. They all were in good health after being operated. PMID:8146343

  8. [The sonographic diagnosis of hypertrophic stenosis of the pylorus].

    PubMed

    Rodríguez, R I; Briceño de Rodríguez, J A; Urrutia, M

    1993-05-01

    The clinical records of 18 children were studied, between 15 and 60 days old. They were hospitalized due to vomiting and diagnosis of suspected pyloric hypertrophic stenosis (PHS). The sonography confirmed the diagnosis in 8 children, by the thickening of the muscular layer and enlargement of the pyloric canal. The surgery (pyloromyotomy) ratified the diagnosis in all 8 children. They all were in good health after being operated. PMID:8327749

  9. Hypertrophic scar.

    PubMed

    Gabriel, Vincent

    2011-05-01

    Hypertrophic scars are common complications of burn injury and other soft tissue injuries. Excessive extracellular matrix combined with inadequate remodeling of scar tissue results in an aesthetically and functionally unsatisfactory, painful, pruritic scar that can impair function. Treatment options are available to rehabilitation practitioners, but none are entirely satisfactory. An interdisciplinary clinical program is necessary for best outcomes. Challenges to be met by the rehabilitation community include research into the quantification of burn scar measurement, the effects of mechanical forces on wound healing and scar management, and the best combination of surgical, pharmacologic, and therapy interventions to maximize outcome from reconstructive procedures. PMID:21624722

  10. Torus Hyperplasia of the Pyloric Antrum

    PubMed Central

    Kim, Chi-Hun; Han, Hye Seung; 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. PMID:20054408

  11. Eosinophilic bodies in pyloric and Brunner's gland cells.

    PubMed Central

    Rubio, C A; Hirota, T; Itabashi, M; Jacobsson, B; Lignelid, H

    1992-01-01

    A previously unreported cell phenotype occurred in the pyloric and Brunner glands in two gastrectomy specimens. The cells were characterised by homogeneous, eosinophilic material in the cytoplasm. The eosinophilic material had an abnormally strong reactivity for Cystatin C, a protein found recently in the normal secretion of pyloric and Brunner's gland cells. The reason for the apparent cytoplasmic accumulation of cystatin C in the two patients described remains unclear. Images PMID:1479043

  12. 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

  13. Hypertrophic discoid lupus erythematosus.

    PubMed

    Farley-Loftus, Rachel; Elmariah, Sarina B; Ralston, Jonathan; Kamino, Hideko; Franks, Andrew G

    2010-11-15

    Hypertrophic discoid lupus erythematosus is a distinct form of chronic cutaneous (discoid) lupus, which is characterized by hyperkeratotic plaques that typically are observed over the face, arms, and upper trunk. We present the case of a 43-year-old man with verrucous plaques that were distributed symmetrically over the face, who initially was treated with oral antibiotics and topical glucocorticoids for acne vulgaris. A biopsy specimen confirmed the diagnosis of hypertrophic discoid lupus erythematosus. The clinical and histopathologic features of this clinical variant are reviewed.

  14. Topography and measurement of pyloric pressure waves and tone in humans.

    PubMed

    Heddle, R; Dent, J; Toouli, J; Read, N W

    1988-10-01

    The topography of human pyloric pressure is ill defined, and previous studies of pyloric motility in humans have given conflicting results. A detailed profile of pyloric pressure has been recorded in seven healthy volunteers using a manometric assembly with 13 side holes spaced at 3-mm intervals on reverse aspect of a 3.5-cm long sleeve sensor. After a fasting control period of 40 min, recordings were made for 40 min during intraduodenal infusion of a lipid emulsion. Two major patterns of pressure waves were seen during the fasting control period, namely pressure waves confined to a narrow pyloric zone (isolated pyloric pressure waves) and pressure waves that were less localized and involved the antrum and/or duodenum. During lipid infusion the motility pattern was dominated by isolated pyloric pressure waves and localized pyloric tone. Ninety-two percent of the isolated pyloric pressure waves recorded by the sleeve were recorded by only one or two side holes, consistent with a phasically active zone less than 9 mm in length. Pyloric tone was confined to an even narrower zone and was most often recorded by only one side hole. When both tone and isolated pyloric pressure waves occurred together, they were recorded by the same side holes. By comparison with the side holes, the sleeve recorded 89% of isolated pyloric pressure waves and 98% of nonlocalized waves and recorded pyloric tone with a moderate sensitivity but high specificity. The technical challenge of recording localized pyloric contraction is considerable, and much of the conflict between previous studies of the human pylorus is explicable on methodological grounds.(ABSTRACT TRUNCATED AT 250 WORDS)

  15. 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.

  16. 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.

  17. Prenatal diagnosis of isolated congenital pyloric atresia in a sibling.

    PubMed

    Usui, Noriaki; Kamiyama, Masafumi; Kimura, Takuya; Kamata, Shinkichi; Nose, Keisuke; Fukuzawa, Masahiro

    2013-02-01

    Although familial occurrence of congenital pyloric atresia (CPA) has been frequently reported in the past, many of these cases were associated with epidermolysis bullosa (EB), and familial isolated CPA was a relatively rare condition. We prenatally diagnosed and successfully treated a sibling of a subject with isolated CPA, who was diagnosed prenatally by fetal ultrasonography based on the findings of a distended stomach combined with polyhydramnios. The first case was a 2398-g female infant born at 36 weeks of gestation, who had been prenatally diagnosed as CPA. The second case, a younger sister of the first case, was a female infant weighing 2434 g, who had been also diagnosed as CPA by fetal ultrasonography at the check-up for the polyhydramnios of the same mother. Neither of the infants showed dermal lesions such as EB, and both underwent pyloroplasty with an excision of the pyloric membrane successfully after birth. PMID:23409992

  18. INFANTILE PARALYSIS

    PubMed Central

    1917-01-01

    At the recent Forty-fourth Annual Meetings of the American Public Health Association, Cincinnati, Ohio, there was held a Round Table Discussion on Infantile Paralysis, in which health authorities throughout the country took part. This discussion was held under the auspices of the Section on Public Health Administration. Dr. George W. Goler, Health Officer of Rochester, N. Y., Chairman of this Section, presided. We take great pleasure in being able to reproduce for readers of the Journal what took place at this most important session. PMID:18009618

  19. Antral or Pyloric Deformity Is a Risk Factor for the Development of Postendoscopic Submucosal Dissection Pyloric Strictures

    PubMed Central

    Hahn, Kyu Yeon; Park, Jun Chul; Lee, Hyun Jik; Park, Chan Hyuk; Chung, Hyunsoo; Shin, Sung Kwan; Lee, Sang Kil; Lee, Yong Chan

    2016-01-01

    Background/Aims Surgeons must be aware of risk factors for strictures before performing endoscopic submucosal dissection (ESD), to enable early interventions to prevent severe strictures. Methods This study was a single-center retrospective study. We reviewed the clinical data of patients who has undergone gastric ESD from January 2007 to December 2012. Results Among the 3,819 patients who had undergone gastric ESD, 11 patients (7.2%) developed pyloric strictures and received successful endoscopic balloon dilation. Significant differences were noted between the patients without and with post-ESD strictures for pretreatment of antral or pyloric deformities (46.4% vs 81.8%), the proportion of extension to the lumen circumference (>3/4, 9.4% vs 54.5%), the longitudinal extent of mucosal defects (27.9±10.1 mm vs 51.5±10.8 mm), and post-ESD bleeding (2.9% vs 27.3%). Multivariate analysis revealed that pretreatment antral or pyloric deformities (odds ratio [OR], 30.53; 95% confidence interval [CI], 1.476 to 631.565; p=0.027), larger longitudinal extent of mucosal defects (OR, 1.20; 95% CI, 1.074 to 1.340; p=0.001), and circumferential extension of 3/4 (OR, 13.69; 95% CI, 1.583 to 118.387; p=0.017) were independent risk factors for post-ESD stricture. Conclusions Antral or pyloric deformities, sub-circumferential resection over more than 75% of the circumference and greater longitudinal extent of mucosal defects are independent risk factors for post-ESD stricture. PMID:27282263

  20. Hypertrophic Cardiomyopathy: A Review

    PubMed Central

    Houston, Brian A; Stevens, Gerin R

    2014-01-01

    Hypertrophic cardiomyopathy (HCM) is a global disease with cases reported in all continents, affecting people of both genders and of various racial and ethnic origins. Widely accepted as a monogenic disease caused by a mutation in 1 of 13 or more sarcomeric genes, HCM can present catastrophically with sudden cardiac death (SCD) or ventricular arrhythmias or insidiously with symptoms of heart failure. Given the velocity of progress in both the fields of heart failure and HCM, we present a review of the approach to patients with HCM, with particular attention to those with HCM and the clinical syndrome of heart failure. PMID:25657602

  1. Hypertrophic cardiomyopathy: a review.

    PubMed

    Hensley, Nadia; Dietrich, Jennifer; Nyhan, Daniel; Mitter, Nanhi; Yee, May-Sann; Brady, MaryBeth

    2015-03-01

    Hypertrophic cardiomyopathy (HCM) is a relatively common disorder that anesthesiologists encounter among patients in the perioperative period. Fifty years ago, HCM was thought to be an obscure disease. Today, however, our understanding and ability to diagnose patients with HCM have improved dramatically. Patients with HCM have genotypic and phenotypic variability. Indeed, a subgroup of these patients exhibits the HCM genotype but not the phenotype (left ventricular hypertrophy). There are a number of treatment modalities for these patients, including pharmacotherapy to control symptoms, implantable cardiac defibrillators to manage malignant arrhythmias, and surgical myectomy and septal ablation to decrease the left ventricular outflow obstruction. Accurate diagnosis is vital for the perioperative management of these patients. Diagnosis is most often made using echocardiographic assessment of left ventricular hypertrophy, left ventricular outflow tract gradients, systolic and diastolic function, and mitral valve anatomy and function. Cardiac magnetic resonance imaging also has a diagnostic role by determining the extent and location of left ventricular hypertrophy and the anatomic abnormalities of the mitral valve and papillary muscles. In this review on hypertrophic cardiomyopathy for the noncardiac anesthesiologist, we discuss the clinical presentation and genetic mutations associated with HCM, the critical role of echocardiography in the diagnosis and the assessment of surgical interventions, and the perioperative management of patients with HCM undergoing noncardiac surgery and management of the parturient with HCM. PMID:25695573

  2. 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

  3. Update on hypertrophic scar treatment.

    PubMed

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

    2014-08-01

    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

  4. Gastroduodenal ulcer treated by pylorus and pyloric vagus-preservinggastrectomy

    PubMed Central

    Lu, Yun-Fu; Zhang, Xin-Xin; Zhao, Ge; Zhu, Qing-Hua

    1999-01-01

    AIM To evaluate the curative effect of pylorus and pyloric vagus-preserving gastrectomy (PPVPG) on peptic ulcer. METHODS Treating 132 cases of GU and DU with PPVPG, and com parative studies made with 24 cases treated with Billroth I (B I) and 20 cases with Billroth II (B II); advantages and shortcomings evaluated. RESULTS Not a single death after PPVPG. No recurrence of the disorder in the subsequent follow-up for an average of 6.5 years. Curative effect (visik I-&-II) 97.7%. Acidity reduction similar to that found in B I and B II, but 97.7% of the B I and all B II cases having more than second degree intestinal fluid reflux, in contrast to 7.1% in PPVPG cases. Dumping syndrome occurred in the B I and B II cases, none in PPVPG cases. With regard to gastric emptying, food digestion, absorption, body weight and life quality, PPVPG proved to be superior to Billroth procedure. CONCLUSION PPVPG has the advantages of conventional Billroth gastrectomy in reducing acid, removing ulcer focus, and at the same time preserves the pylorus and pyloric vagus for maintaining the normal gastric physiological function. Dumping syndrome, intestinal fluid reflux and other complications of conventional gastrectomy may be avoided. PMID:11819417

  5. [Arachnoid cyst associated with pyloric stenosis in a young boy].

    PubMed

    Diaconescu, Smaranda; Păduraru, Gabriela; Bărbuţă, O; Vâscu, B; Lupu, V V; Burlea, M; Aprodu, G

    2010-01-01

    An unusual association between an arachnoid cyst and a decompensated pyloric stenosis in a three years-old boy is presented. The little patient was admitted into hospital with haematemesis, melena, influenced generally condition and acute posthemorrhagic anaemia following aspirin intake for hypertermia. Specific intensive care was successful and the little patient was discharged but without an upper digestive endoscopy(parents refusal, technical reasons). After one week he returned with progressive worsening vomitings and an intracranial hypertension was suspected. CT documented an arachnoid cyst in the right middle cranial fossa and the patient is directed to the Neurosurgical Clinic where a cyst fenestration was done. Subsequent to operation the vomitings reinstaled with severe dehydration and an upper GI series showed a decompensated pyloric stenosis. He was operated on underwenting an antrectomy. Finally the child recovered with good short and long-term evolution. The coincidental presence of an intracranial congenital mass and a complicated aspirin-induced peptic ulcer in this young patient, misleaded us and in the lack of an early endoscopy an intempestive neurosurgical operation was initially done. PMID:21500459

  6. Misconceptions and Facts About Hypertrophic Cardiomyopathy.

    PubMed

    Argulian, Edgar; Sherrid, Mark V; Messerli, Franz H

    2016-02-01

    Hypertrophic cardiomyopathy is the most common genetic heart disease. Once considered relentless, untreatable, and deadly, it has become a highly treatable disease with contemporary management. Hypertrophic cardiomyopathy is one of cardiology's "great masqueraders." Mistakes and delays in diagnosis abound. Hypertrophic cardiomyopathy commonly "masquerades" as asthma, anxiety, mitral prolapse, and coronary artery disease. However, once properly diagnosed, patients with hypertrophic cardiomyopathy can be effectively managed to improve both symptoms and survival. This review highlights some of the misconceptions about hypertrophic cardiomyopathy. Providers at all levels should have awareness of hypertrophic cardiomyopathy to promptly diagnose and properly manage these individuals. PMID:26299316

  7. Cardiac arrhythmias in hypertrophic cardiomyopathy.

    PubMed Central

    Bjarnason, I; Hardarson, T; Jonsson, S

    1982-01-01

    This study was designed to assess the prevalence of cardiac arrhythmias in a group of relatives of patients who had come to necropsy with hypertrophic cardiomyopathy. Another aim of the study was to assess the validity of an interventricular septal thickness of 1.3 cm or more, measured by echocardiography, as a diagnostic criterion of hypertrophic cardiomyopathy among relatives of cases proven at necropsy. Fifty close relatives of eight deceased patients were examined. By the above definition 22 relatives had hypertrophic cardiomyopathy and 28 did not. A comparison of the prevalence and types of cardiac arrhythmias, as shown by 24 hour ambulatory electrocardiographic monitoring, was made between the two groups and a third apparently healthy group of 40 people. The patients with hypertrophic cardiomyopathy showed a significant increase in supraventricular extrasystoles/24 hours, supraventricular arrhythmias, high grade ventricular arrhythmia, and the number of patients with more than 10 ventricular extrasystoles every 24 hours when compared with the other groups. There was no significant difference between normal relatives and controls. The prevalence and types of arrhythmia in these patients were similar to those found by other investigators using different diagnostic criteria. These results support the contention that these patients do indeed have hypertrophic cardiomyopathy and suggest that all close relatives of necropsy proven cases should be examined by echocardiography and subsequently by ambulatory electrocardiographic monitoring if the interventricular septal thickness is 1.3 more. PMID:7201843

  8. NSAID-induced pyloric stenosis leading to oesophageal intramucosal dissection.

    PubMed

    Tey, Kai Rou; Kemmerly, Thomas; Banerjee, Bhaskar

    2016-01-01

    We describe a rare case of a 75-year-old woman with significant non-steroidal anti-inflammatory drug (NSAID) use who presented with haematemesis. Upper endoscopy revealed a large (9 cm) intramucosal dissection of the oesophagus without extension into the gastro-oesophageal junction and a severely narrowed pylorus. We postulate that she developed pyloric stenosis due to peptic ulcer disease from chronic NSAID use. This then led to gastro-oesophageal reflux. Undigested pills in the refluxate had contacted oesophageal mucosa, leading to pill-induced oesophageal injury. This, along with vomiting, is postulated to have led to the oesophageal intramucosal dissection. She improved with conservative medical management with a clear liquid diet and proton pump inhibitors, and a follow-up upper endoscopy 1 week later showed recovery of the previously seen intramucosal dissection. PMID:27199442

  9. Management of infantile spasms

    PubMed Central

    2015-01-01

    West syndrome, or infantile spasms syndrome is a frequently catastrophic infantile epileptic encephalopathy with a variety of etiologies. Despite the heterogeneous nature of causes of infantile spasms, a careful diagnostic evaluation can lead to diagnosis in many patients and may guide treatment choices. Magnetic resonance imaging (MRI) brain remains the highest yield initial study in determining the etiology in infantile spasms. Treatment of infantile spasms has little class I data, but adrenocorticotropic hormone (ACTH), prednisolone and vigabatrin have the best evidence as first-line medications. Other therapies including the ketogenic diet and other anti-epileptics medications may also prove useful in the treatment of infantile spasms. In general, more studies are needed to determine the best treatment regimen for this condition. Prognosis is generally poor, with the majority of patients having some or profound neurocognitive delays. Patients without delays at diagnosis and without an identifiable etiology, if treated appropriately, have the greatest likelihood of a normal outcome. PMID:26835388

  10. Topical treatments for hypertrophic scars.

    PubMed

    Zurada, Joanna M; Kriegel, David; Davis, Ira C

    2006-12-01

    Hypertrophic scars represent an abnormal, exaggerated healing response after skin injury. In addition to cosmetic concern, scars may cause pain, pruritus, contractures, and other functional impairments. Therapeutic modalities include topical medications, intralesional corticosteroids, laser therapy, and cryosurgery. Topical therapies, in particular, have become increasingly popular because of their ease of use, comfort, noninvasiveness, and relatively low cost. This review will discuss the properties and effectiveness of these agents, including pressure therapy, silicone gel sheeting and ointment, polyurethane dressing, onion extract, imiquimod 5% cream, and vitamins A and E in the prevention and treatment of hypertrophic scars. PMID:17097399

  11. Conservative treatment of esophageal perforation related to a peptic ulcer with pyloric stenosis.

    PubMed

    Tanaka, Ryo; Kosugi, Shin-Ichi; Sato, Daisuke; Hirukawa, Hiroshi; Tada, Tetsuya; Ichikawa, Hiroshi; Hanyu, Takaaki; Ishikawa, Takashi; Kobayashi, Takashi; Wakai, Toshifumi

    2014-08-01

    We report a case of esophageal perforation (Boerhaave syndrome) caused by vomiting related to a duodenal ulcer with pyloric stenosis. A 45-year-old male presented with left chest pain and dyspnea after forceful vomiting. Chest radiography and computed tomography (CT) revealed a massive left pleural effusion and left tension pneumothorax. Abdominal CT revealed pyloric stenosis with a remarkably dilated stomach. Tube thoracostomy and nasogastric suction were immediately performed and we selected conservative treatment based on the following factors-a stable general condition without sepsis, early diagnosis, and good drainage. Esophagogastroduodenoscopy on hospital day 9 demonstrated a healing ulcer in the lower esophagus and pyloric stenosis. We performed distal gastrectomy as elective surgery for pyloric stenosis due to a duodenal ulcer on hospital day 30. In summary, an esophageal perforation with contamination spreading to the thoracic cavity was successfully treated with conservative treatment.

  12. Pyloric ceca of fish: a "new" absorptive organ.

    PubMed

    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 we 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 (the ceca contribute 70, 69, 42, and 16% of the total postgastric surface area, respectively). 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 less than 150 microns 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.

  13. 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.

  14. 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

  15. Inhibitory Effects of Botulinum Toxin Type A on Pyloric Cholinergic Muscle Contractility of Rat.

    PubMed

    Zhao, Peng; Sun, Hong-Xu; Chu, Min; Hou, Yi-Ping

    2016-08-31

    Botulinum toxin type A (BTX-A) selectively cleaves synaptosomal-associated protein of 25 kDa (SNAP-25) and results in inhibition of the fusion of synaptic vesicles containing neurotransmitters with the presynaptic membrane to undergo exocytosis and release. The aim of this study was to investigate whether BTX-A inhibited the pyloric smooth muscle contractility induced by acetylcholine (ACh) after BTX-A-mediated cleavage of SNAP-25 antagonized by toosendanin (TSN). Three groups of rat pyloric muscle strips were studied in vitro. All strips were allowed to equilibrate for 52 min under a basal loading tension of 1 g in Krebs solution and spontaneous contractile waves were recorded as their own controls before adding each drug. According to experimental protocols, 100 μM ACh, 1 μM atropine, 29.6 μM TSN and 10 U/ml BTX-A was added, respectively. BTX-A directly inhibited pyloric spontaneous contraction and ACh-induced contractile response. Addition of 10 U/ml BTX-A still inhibited pyloric smooth muscle contractility following incubation of TSN, while subsequent administration of 100 μM ACh had no effect. BTX-A inhibits pyloric smooth muscle contractility in our study suggesting BTX-A inhibits not only ACh release from cholinergic nerves but also muscarinic cholinergic muscular transmission. PMID:27426259

  16. Surgical and Medical Treatment of Pyloric and Duodenal Pythiosis in a Dog.

    PubMed

    Dycus, David Lee; Fisher, Cory; Butler, Ryan

    2015-01-01

    A 5 yr old, male, neutered mixed-breed dog was referred for persistent vomiting 2 wk following a pyloric biopsy for a pyloric outflow obstruction. Histopathology at the time of initial surgery was suggestive of pythiosis. Following referral, the dog underwent radical surgical treatment with a Billroth II procedure, partial pancreatectomy, and cholecystoduodenostomy. Histopathology and serology confirmed the diagnosis of pythiosis and medical treatment consisting of itraconazole and terbinafine was started postoperatively. Serology titers were checked again at 8, 12, and 24 wk postoperatively revealing a positive response to treatment and no reoccurrence of pythiosis. Since surgery, the patient experienced waxing and waning elevations of liver values and laparoscopic liver biopsies 10 mo postoperatively revealed hepatic cirrhosis with fibrosis, bile duct hyperplasia, and chronic inflammation. This report documents successful treatment of pyloric/duodenal pythiosis and the long-term (17 mo) consequences associated with the Billroth II, partial pancreatectomy, and biliary rerouting in the dog. PMID:26535457

  17. Birth defects in relation to Bendectin use in pregnancy. II. Pyloric stenosis.

    PubMed

    Mitchell, A A; Schwingl, P J; Rosenberg, L; Louik, C; Shapiro, S

    1983-12-01

    To test the hypothesis that the use of Bendectin in pregnancy increases the risk of pyloric stenosis, we determined rates of antenatal Bendectin exposure among 325 infants with pyloric stenosis and among two control groups comprising infants with other defects; one consisted of 3,153 infants with other conditions, and the other, a subset of that group, consisted of 724 infants with defects that may have had their origins at any time in pregnancy. Comparisons between the cases and the two control series yielded estimated relative risks of 0.9 (95% confidence interval, 0.6 to 1.2) and 1.0 (0.7 to 1.4), respectively. The findings from this large case-control study suggest that Bendectin does not increase the risk of pyloric stenosis.

  18. Comparative morphology of the pyloric armature of adult mosquitoes (Diptera: Culicidae).

    PubMed

    Tuten, H C; Bridges, W C; Adler, P H

    2012-09-01

    The structure of the pyloric armature, hypothesized to aid in blood-meal digestion or parasite resistance, was compared quantitatively among the following 8 species in 5 genera of adult mosquitoes from the southeastern United States: Aedes albopictus, Aedes japonicus, Aedes triseriatus, Anopheles punctipennis, Culex pipiens s.l., Culex restuans, Orthopodomyia signifera, and Toxorhynchites rutilus. Females differed significantly among species in the structure of spines composing the armature, with Aedes spp. forming one general group, Culex spp. another, and An. punctipennis and Or. signifera a third. Relationships of species based on structural characters of the armature were consistent with recent culicid phylogenies. Although pyloric armature has been noted in mosquitoes and other insects, this is the first quantitative investigation of the mosquito pyloric armature.

  19. The high prevalence of Helicobacter sp. in porcine pyloric mucosa and its histopathological and molecular characteristics.

    PubMed

    Park, Jong-Hwan; Seok, Seung-Hyeok; Cho, Sun-A; Baek, Min-Won; Lee, Hui-Young; Kim, Dong-Jae; Park, Jae-Hak

    2004-12-01

    This study examined the prevalence of Helicobacter infection in the pyloric mucosa of pigs and its histopathological and molecular characteristics. Forty porcine pyloric samples were examined for Helicobacter infection by silver staining and PCR assay. The PCR product (376 bp) was digested with NdeII to differentiate between Helicobacter heilmannii and Helicobacter pylori. Another PCR assay run to produce an 1157 bp fragment was performed using a primer set designed from the 16S rRNA gene of Candidatus H. suis, and its product was cloned and sequenced. Infection rates were 62.5% (25/40) and 95.0% (38/40) as determined by silver staining and the PCR assay, respectively. On histopathological examination, lymphoid follicle aggregation in the pyloric mucosa and granulocytic migration into the lumen of pyloric glands were observed in 24 (60.0%) and 33 (82.5%) gastric samples, respectively. All PCR products, except that of H. pylori, were cut into two fragments of 147 and 229 bp by enzymatic digestion with NdeII. Sequencing of the 16S rRNA gene showed that the bacterium had 99.57% (1152 bp/1157 bp) homology to the 16S rRNA gene of Candidatus H. suis.

  20. A rare occurrence of pyloric stenosis in an infant with osteogenesis imperfecta: Anesthetic implications

    PubMed Central

    Jagtap, Sheetal R; Bakhshi, Rochana G; Jain, Ankit

    2014-01-01

    Congenital anomalies pose many challenges during anesthesia due to anatomic and physiological alterations. The inherent complications associated with the disorders necessitate vigilance for providing anesthesia to even seemingly simple surgical intervention. Here, we share our experience of anesthesia management of an infant of congenital osteogenesis imperfecta with pyloric stenosis for pyloromyotomy. PMID:24803772

  1. 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.

  2. 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.

  3. Propranolol (Infantile Hemangioma)

    MedlinePlus

    Propranolol oral solution is used to treat proliferating infantile hemangioma (benign [noncancerous] growths or tumors appearing on or under ... Propranolol comes as an oral solution (liquid) to take by mouth. Propranolol oral solution is usually taken twice daily (9 hours apart) during or immediately ...

  4. A common factor in hypertrophic osteoarthropathy

    PubMed Central

    Carroll, K. B.; Doyle, L.

    1974-01-01

    Carroll, K. B. and Doyle, L. (1974).Thorax, 29, 262-264. A common factor in hypertrophic osteoarthropathy. Two cases of oesophageal disease with hypertrophic osteoarthropathy are presented. The unusual site of the primary lesion has prompted a review of the literature and led to the conclusion that there is a common innervation accounting for a common afferent arc which is an integral and basic part of the mechanism in this disorder. Images PMID:4831530

  5. 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

  6. 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.

  7. Gastrojejunostomy for pyloric stenosis after acute gastric dilatation due to overeating.

    PubMed

    Kimura, Akiharu; Masuda, Norihiro; Haga, Norihiro; Ito, Tomokazu; Otsuka, Kichirou; Takita, Jyunko; Satomura, Hitoshi; Kumakura, Yuji; Kato, Hiroyuki; Kuwano, Hiroyuki

    2015-02-01

    A 34-year-old woman presented at our hospital with abdominal distention due to overeating. Acute gastric dilatation was diagnosed. The patient was hospitalized, and nasogastric decompression was initiated. On hospitalization day 3, she developed shock, and her respiratory state deteriorated, requiring intubation and mechanical ventilation. Nasogastric decompression contributed to the improvement in her clinical condition. She was discharged 3 mo after admission. During outpatient follow-up, her dietary intake decreased, and her body weight gradually decreased by 14 kg. An upper gastrointestinal series and endoscopy revealed pyloric stenosis; therefore, we performed gastrojejunostomy 18 mo after her initial admission. The patient was discharged from the hospital with no postoperative complications. Gastric necrosis and perforation due to overeating-induced gastric dilatation are life-threatening conditions. Surgical intervention may be required if delayed pyloric stenosis occurs after conservative treatment. We report a case of pyloric stenosis due to overeating-induced gastric dilatation treated by gastrojejunostomy 18 mo after the initial presentation.

  8. Gastrojejunostomy for pyloric stenosis after acute gastric dilatation due to overeating

    PubMed Central

    Kimura, Akiharu; Masuda, Norihiro; Haga, Norihiro; Ito, Tomokazu; Otsuka, Kichirou; Takita, Jyunko; Satomura, Hitoshi; Kumakura, Yuji; Kato, Hiroyuki; Kuwano, Hiroyuki

    2015-01-01

    A 34-year-old woman presented at our hospital with abdominal distention due to overeating. Acute gastric dilatation was diagnosed. The patient was hospitalized, and nasogastric decompression was initiated. On hospitalization day 3, she developed shock, and her respiratory state deteriorated, requiring intubation and mechanical ventilation. Nasogastric decompression contributed to the improvement in her clinical condition. She was discharged 3 mo after admission. During outpatient follow-up, her dietary intake decreased, and her body weight gradually decreased by 14 kg. An upper gastrointestinal series and endoscopy revealed pyloric stenosis; therefore, we performed gastrojejunostomy 18 mo after her initial admission. The patient was discharged from the hospital with no postoperative complications. Gastric necrosis and perforation due to overeating-induced gastric dilatation are life-threatening conditions. Surgical intervention may be required if delayed pyloric stenosis occurs after conservative treatment. We report a case of pyloric stenosis due to overeating-induced gastric dilatation treated by gastrojejunostomy 18 mo after the initial presentation. PMID:25663789

  9. 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. PMID:26330094

  10. Role of Ih in differentiating the dynamics of the gastric and pyloric neurons in the stomatogastric ganglion of the lobster, Homarus americanus.

    PubMed

    Zhu, Lin; Selverston, Allen I; Ayers, Joseph

    2016-06-01

    The hyperpolarization-activated inward cationic current (Ih) is known to regulate the rhythmicity, excitability, and synaptic transmission in heart cells and many types of neurons across a variety of species, including some pyloric and gastric mill neurons in the stomatogastric ganglion (STG) in Cancer borealis and Panulirus interruptus However, little is known about the role of Ih in regulating the gastric mill dynamics and its contribution to the dynamical bifurcation of the gastric mill and pyloric networks. We investigated the role of Ih in the rhythmic activity and cellular excitability of both the gastric mill neurons (medial gastric, gastric mill) and pyloric neurons (pyloric dilator, lateral pyloric) in Homarus americanus Through testing the burst period between 5 and 50 mM CsCl, and elimination of postinhibitory rebound and voltage sag, we found that 30 mM CsCl can sufficiently block Ih in both the pyloric and gastric mill neurons. Our results show that Ih maintains the excitability of both the pyloric and gastric mill neurons. However, Ih regulates slow oscillations of the pyloric and gastric mill neurons differently. Specifically, blocking Ih diminishes the difference between the pyloric and gastric mill burst periods by increasing the pyloric burst period and decreasing the gastric mill burst period. Moreover, the phase-plane analysis shows that blocking Ih causes the trajectory of slow oscillations of the gastric mill neurons to change toward the pyloric sinusoidal-like trajectories. In addition to regulating the pyloric rhythm, we found that Ih is also essential for the gastric mill rhythms and differentially regulates these two dynamics.

  11. Role of Ih in differentiating the dynamics of the gastric and pyloric neurons in the stomatogastric ganglion of the lobster, Homarus americanus.

    PubMed

    Zhu, Lin; Selverston, Allen I; Ayers, Joseph

    2016-06-01

    The hyperpolarization-activated inward cationic current (Ih) is known to regulate the rhythmicity, excitability, and synaptic transmission in heart cells and many types of neurons across a variety of species, including some pyloric and gastric mill neurons in the stomatogastric ganglion (STG) in Cancer borealis and Panulirus interruptus However, little is known about the role of Ih in regulating the gastric mill dynamics and its contribution to the dynamical bifurcation of the gastric mill and pyloric networks. We investigated the role of Ih in the rhythmic activity and cellular excitability of both the gastric mill neurons (medial gastric, gastric mill) and pyloric neurons (pyloric dilator, lateral pyloric) in Homarus americanus Through testing the burst period between 5 and 50 mM CsCl, and elimination of postinhibitory rebound and voltage sag, we found that 30 mM CsCl can sufficiently block Ih in both the pyloric and gastric mill neurons. Our results show that Ih maintains the excitability of both the pyloric and gastric mill neurons. However, Ih regulates slow oscillations of the pyloric and gastric mill neurons differently. Specifically, blocking Ih diminishes the difference between the pyloric and gastric mill burst periods by increasing the pyloric burst period and decreasing the gastric mill burst period. Moreover, the phase-plane analysis shows that blocking Ih causes the trajectory of slow oscillations of the gastric mill neurons to change toward the pyloric sinusoidal-like trajectories. In addition to regulating the pyloric rhythm, we found that Ih is also essential for the gastric mill rhythms and differentially regulates these two dynamics. PMID:26912595

  12. 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.

  13. Primary hypertrophic osteoarthropathy (pachydermoperiostosis): a case report.

    PubMed

    Karkucak, Murat; Erturk, Engin; Capkin, Erhan; Akyazi, Hikmet; Ozden, Gonca; Tosun, Mehmet

    2007-02-01

    Hypertrophic osteoarthropathy is characterized by digital clubbing and periosteal reaction of long bones. Most cases are associated with malignancy or other conditions such as congenital heart disease, liver cirrhosis, pulmonary fibrosis, biliary atresia, and gastrointestinal polyps. We report a 19-year-old man presenting with arthritis, broadening of the fingers and clubbing of the fingers and toes for the previous 3 years. The ankles and knees were swollen. X-rays showed periosteal apposition. The search for a secondary cause remained negative. In cases of arthralgia/arthritis together with clubbed fingers, consideration must be given to hypertrophic osteoarthropathy. The primary or idiopathic form is rare and has a good prognosis.

  14. Hypertrophic cardiomyopathy in a college athlete.

    PubMed

    Simons, S M; Moriarity, J

    1992-12-01

    The greatest catastrophy in sports is an athlete's unexpected sudden death. Identifying those athletes at risk remains a great challenge to physicians performing preseason examinations. Hypertrophic cardiomyopathy is the most common cause of nontraumatic sudden death in athletes. Most cases of this diseased heart are diagnosed easily by echocardiography. The case presented exemplifies the attention to detail required to differentiate the borderline diseased heart from the conditioned athletic heart. Once a diagnosis of hypertrophic cardiomyopathy is made, further participation in intense physical exercise is discouraged. This recommendation is necessary despite the unknown relative sudden death risk for the minimal criteria cases.

  15. Intracranial infantile hemangiopericytoma.

    PubMed

    McHugh, Brian J; Baranoski, Jacob F; Malhotra, Ajay; Vortmeyer, Alexander O; Sze, Gordon; Duncan, Charles C

    2014-08-01

    Intracranial infantile hemangiopericytomas (HPCs) are exceedingly rare lesions. Only 11 cases have been previously reported in the literature. As such, little is known about the etiology, long-term prognosis, and optimal treatment paradigm. Clinically, they are consistently less aggressive than those in adults. The authors present the case of a 2-month-old boy with an intracranial HPC, review the available literature, discuss the evolving concepts of what defines an HPC, and offer a potential explanation to how HPC histology might relate to the clinical behavior of these lesions.

  16. 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

  17. 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

  18. Contractile Dysfunction in Sarcomeric Hypertrophic Cardiomyopathy.

    PubMed

    MacIver, David H; Clark, Andrew L

    2016-09-01

    The pathophysiological mechanisms underlying the clinical phenotype of sarcomeric hypertrophic cardiomyopathy are controversial. The development of cardiac hypertrophy in hypertension and aortic stenosis is usually described as a compensatory mechanism that normalizes wall stress. We suggest that an important abnormality in hypertrophic cardiomyopathy is reduced contractile stress (the force per unit area) generated by myocardial tissue secondary to abnormalities such as cardiomyocyte disarray. In turn, a progressive deterioration in contractile stress provokes worsening hypertrophy and disarray. A maintained or even exaggerated ejection fraction is explained by the increased end-diastolic wall thickness producing augmented thickening. We propose that the nature of the hemodynamic load in an individual with hypertrophic cardiomyopathy could determine its phenotype. Hypertensive patients with hypertrophic cardiomyopathy are more likely to develop exaggerated concentric hypertrophy; athletic individuals an asymmetric pattern; and inactive individuals a more apical hypertrophy. The development of a left ventricular outflow tract gradient and mitral regurgitation may be explained by differential regional strain resulting in mitral annular rotation.

  19. 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…

  20. Pathogenesis of infantile hemangiomas.

    PubMed

    Uihlein, Lily Changchien; Liang, Marilyn G; Mulliken, John B

    2012-08-01

    1.Review the key features of the life cycle of infantile hemangiomas.2.Highlight cellular and molecular pathways involved in hemangioma-genesis.3.Discuss theories that may account for hemangioma-genesis.In the past, it was believed that a mother's visual impressions or behavior during pregnancy caused the growth of infantile hemangioma in her unborn child. She might have had an excessive craving for strawberries, witnessed the slaughter of an animal, directly contacted human or animal blood, or mocked a child with a similar birthmark.1 This folklore began to slowly fade once hemangiomas were examined through the light microscope. In 1863, Virchow2 suggested that hemangiomas are composed of proliferating new blood vessels resulting from progressive irritation of tissue. In 1933, Laidlow and Murray3 proposed a phylogenetic origin for hemangiomas and hypothesized that hemangiomas are remnants of vascular tufts functioning as accessory lungs for primitive amphibia. Pack and Miller4 (1950) hypothesized that hemangiomas develop from embryonic islands of angioblastic cells that were isolated from the systemic vasculature during fetal development. PMID:22881413

  1. 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.

  2. Effect of pyloric drainage on the healing of esophagogastric anastomoses in rats

    PubMed Central

    Cui, Yingjie; Urschel, John D.; Petrelli, Nicholas J.

    2000-01-01

    Background and objectives Esophagogastric anastomotic leaks complicate 5% to 20% of esophagectomies for esophageal cancer and are responsible for approximately one-third of perioperative deaths. Poor gastric emptying is a predisposing factor for anastomotic leakage. An animal experiment was used to test the hypothesis that a pyloric drainage procedure (pyloromyotomy) would have a positive effect on esophagogastric anastomotic healing. Methods In 40 rats single-layer esophagogastric anastomoses were constructed with interrupted 7-0 polypropylene sutures. A pyloromyotomy was done in the experimental group (20 rats) but not in the control group (20 rats). Rats were sacrificed on the 7th postoperative day and their anastomoses were excised, mounted in a tensiometer, and distracted at 10 mm/min to measure breaking strength. After that, the hydroxyproline concentration (an indicator of wound collagen) of the anastomotic tissue was measured. Results There were no anastomotic leaks. The mean (and standard deviation) breaking strength of the esophagogastric anastomosis was 3.96 (1.14) N in the pyloromyotomy rats and 4.11 (0.75) N in the control rats (p = 0.64). The mean (and SD) hydroxyproline concentration in esophagogastric anastomotic tissue was 368.6 (31.5) nmol/mg in the pyloromyotomy rats and 376.6 (31.3) nmol/mg in the control rats (p = 0.77). Conclusion Pyloric drainage (pyloromyotomy) did not have any effect on esophagogastric anastomotic wound healing in this rat model. PMID:11129835

  3. Pyloric giant Brunner's gland hamartoma as a cause of both duodenojejunal intussusception and obscure gastrointestinal bleeding.

    PubMed

    Bayan, Kadim; Tüzün, Yekta; Yilmaz, Serif; Yilmaz, Gülşen; Bilici, Aslan

    2009-03-01

    Obscure gastrointestinal bleeding is an important dilemma. Brunner's gland hamartoma is an extremely rare tumor generally localized in the duodenal bulb. We present a 34-year-old woman who had suffered from several episodes of melena for the past three years. Endoscopic examinations were normal. Computed tomography showed a large target lesion over the right abdomen and an image representing intestinal malrotation, which was supported by enteroclysis. At exploratory laparotomy, ligamentum of Treitz was located in the mid-to-right side of the columna vertebralis, and the duodenal bulb was found to be invaginated into the proximal jejunum. After longitudinal duodenotomy, a pedunculated ring-shaped large polyp originating from the pyloric ring was seen and excised. Histology was consistent with Brunner's gland hamartoma. This case with obscure bleeding was original with respect to its rarity and being a huge, ring-shaped tumor with pyloric localization. Moreover, the patient had a rare clinical presentation of duodenojejunal intussusception with accompanying intestinal malrotation.

  4. 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.

  5. 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.

  6. The embryological basis of subclinical hypertrophic cardiomyopathy.

    PubMed

    Captur, Gabriella; Ho, Carolyn Y; Schlossarek, Saskia; Kerwin, Janet; Mirabel, Mariana; Wilson, Robert; Rosmini, Stefania; Obianyo, Chinwe; Reant, Patricia; Bassett, Paul; Cook, Andrew C; Lindsay, Susan; McKenna, William J; Mills, Kevin; Elliott, Perry M; Mohun, Timothy J; Carrier, Lucie; Moon, James C

    2016-06-21

    Hypertrophic cardiomyopathy (HCM) is caused by mutations in sarcomeric proteins, the commonest being MYBPC3 encoding myosin-binding protein C. It is characterised by left ventricular hypertrophy but there is an important pre-hypertrophic phenotype with features including crypts, abnormal mitral leaflets and trabeculae. We investigated these during mouse cardiac development using high-resolution episcopic microscopy. In embryonic hearts from wildtype, homozygous (HO) and heterozygous (HET) Mybpc3-targeted knock-out (KO) mice we show that crypts (one or two) are a normal part of wildtype development but they almost all resolve by birth. By contrast, HO and HET embryos had increased crypt presence, abnormal mitral valve formation and alterations in the compaction process. In scarce normal human embryos, crypts were sometimes present. This study shows that features of the human pre-hypertrophic HCM phenotype occur in the mouse. In an animal model we demonstrate that there is an embryological HCM phenotype. Crypts are a normal part of cardiac development but, along with the mitral valve and trabeculae, their developmental trajectory is altered by the presence of HCM truncating Mybpc3 gene mutation.

  7. The embryological basis of subclinical hypertrophic cardiomyopathy

    PubMed Central

    Captur, Gabriella; Ho, Carolyn Y.; Schlossarek, Saskia; Kerwin, Janet; Mirabel, Mariana; Wilson, Robert; Rosmini, Stefania; Obianyo, Chinwe; Reant, Patricia; Bassett, Paul; Cook, Andrew C.; Lindsay, Susan; McKenna, William J.; Mills, Kevin; Elliott, Perry M.; Mohun, Timothy J.; Carrier, Lucie; Moon, James C.

    2016-01-01

    Hypertrophic cardiomyopathy (HCM) is caused by mutations in sarcomeric proteins, the commonest being MYBPC3 encoding myosin-binding protein C. It is characterised by left ventricular hypertrophy but there is an important pre-hypertrophic phenotype with features including crypts, abnormal mitral leaflets and trabeculae. We investigated these during mouse cardiac development using high-resolution episcopic microscopy. In embryonic hearts from wildtype, homozygous (HO) and heterozygous (HET) Mybpc3-targeted knock-out (KO) mice we show that crypts (one or two) are a normal part of wildtype development but they almost all resolve by birth. By contrast, HO and HET embryos had increased crypt presence, abnormal mitral valve formation and alterations in the compaction process. In scarce normal human embryos, crypts were sometimes present. This study shows that features of the human pre-hypertrophic HCM phenotype occur in the mouse. In an animal model we demonstrate that there is an embryological HCM phenotype. Crypts are a normal part of cardiac development but, along with the mitral valve and trabeculae, their developmental trajectory is altered by the presence of HCM truncating Mybpc3 gene mutation. PMID:27323879

  8. The embryological basis of subclinical hypertrophic cardiomyopathy.

    PubMed

    Captur, Gabriella; Ho, Carolyn Y; Schlossarek, Saskia; Kerwin, Janet; Mirabel, Mariana; Wilson, Robert; Rosmini, Stefania; Obianyo, Chinwe; Reant, Patricia; Bassett, Paul; Cook, Andrew C; Lindsay, Susan; McKenna, William J; Mills, Kevin; Elliott, Perry M; Mohun, Timothy J; Carrier, Lucie; Moon, James C

    2016-01-01

    Hypertrophic cardiomyopathy (HCM) is caused by mutations in sarcomeric proteins, the commonest being MYBPC3 encoding myosin-binding protein C. It is characterised by left ventricular hypertrophy but there is an important pre-hypertrophic phenotype with features including crypts, abnormal mitral leaflets and trabeculae. We investigated these during mouse cardiac development using high-resolution episcopic microscopy. In embryonic hearts from wildtype, homozygous (HO) and heterozygous (HET) Mybpc3-targeted knock-out (KO) mice we show that crypts (one or two) are a normal part of wildtype development but they almost all resolve by birth. By contrast, HO and HET embryos had increased crypt presence, abnormal mitral valve formation and alterations in the compaction process. In scarce normal human embryos, crypts were sometimes present. This study shows that features of the human pre-hypertrophic HCM phenotype occur in the mouse. In an animal model we demonstrate that there is an embryological HCM phenotype. Crypts are a normal part of cardiac development but, along with the mitral valve and trabeculae, their developmental trajectory is altered by the presence of HCM truncating Mybpc3 gene mutation. PMID:27323879

  9. 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

  10. Hypertrophic cardiomyopathy in a neonate associated with nemaline myopathy.

    PubMed

    Mir, Arshid; Lemler, Matthew; Ramaciotti, Claudio; Blalock, Shannon; Ikemba, Catherine

    2012-01-01

    Nemaline myopathy is a congenital nonprogressive skeletal muscle disorder with a characteristic rod body formation in the skeletal muscle fibers. Cardiac involvement in nemaline myopathy is rare, although both dilated and hypertrophic cardiomyopathy have been reported. We describe an infant diagnosed with hypertrophic cardiomyopathy and hypotonia on the first day of life. Muscle biopsy confirmed nemaline myopathy at 3 weeks of age. The diagnosis of nemaline myopathy precluded consideration of heart transplantation, thus shifting the focus to comfort care. This is the earliest presentation of hypertrophic cardiomyopathy reported in the literature in the setting of nemaline myopathy. The approach to determining an etiology for hypertrophic cardiomyopathy in an infant is reviewed. PMID:22067214

  11. 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

  12. Exome Sequencing Identifies Mitochondrial Alanyl-tRNA Synthetase Mutations in Infantile Mitochondrial Cardiomyopathy

    PubMed Central

    Götz, Alexandra; Tyynismaa, Henna; Euro, Liliya; Ellonen, Pekka; Hyötyläinen, Tuulia; Ojala, Tiina; Hämäläinen, Riikka H.; Tommiska, Johanna; Raivio, Taneli; Oresic, Matej; Karikoski, Riitta; Tammela, Outi; Simola, Kalle O.J.; Paetau, Anders; Tyni, Tiina; Suomalainen, Anu

    2011-01-01

    Infantile cardiomyopathies are devastating fatal disorders of the neonatal period or the first year of life. Mitochondrial dysfunction is a common cause of this group of diseases, but the underlying gene defects have been characterized in only a minority of cases, because tissue specificity of the manifestation hampers functional cloning and the heterogeneity of causative factors hinders collection of informative family materials. We sequenced the exome of a patient who died at the age of 10 months of hypertrophic mitochondrial cardiomyopathy with combined cardiac respiratory chain complex I and IV deficiency. Rigorous data analysis allowed us to identify a homozygous missense mutation in AARS2, which we showed to encode the mitochondrial alanyl-tRNA synthetase (mtAlaRS). Two siblings from another family, both of whom died perinatally of hypertrophic cardiomyopathy, had the same mutation, compound heterozygous with another missense mutation. Protein structure modeling of mtAlaRS suggested that one of the mutations affected a unique tRNA recognition site in the editing domain, leading to incorrect tRNA aminoacylation, whereas the second mutation severely disturbed the catalytic function, preventing tRNA aminoacylation. We show here that mutations in AARS2 cause perinatal or infantile cardiomyopathy with near-total combined mitochondrial respiratory chain deficiency in the heart. Our results indicate that exome sequencing is a powerful tool for identifying mutations in single patients and allows recognition of the genetic background in single-gene disorders of variable clinical manifestation and tissue-specific disease. Furthermore, we show that mitochondrial disorders extend to prenatal life and are an important cause of early infantile cardiac failure. PMID:21549344

  13. Infantile scurvy: a historical perspective.

    PubMed

    Rajakumar, K

    2001-10-01

    Scurvy, a disease of dietary deficiency of vitamin C, is uncommon today. Among diseases, scurvy has a rich history and an ancient past. The Renaissance (14th to 16th centuries) witnessed several epidemics of scurvy among sea voyagers. In 1747, James Lind, a British Naval surgeon, performed a carefully designed clinical trial and concluded that oranges and lemons had the most antiscorbutic effect. Eventually, with the provision of lemon juice to the sea voyagers, scurvy became rare at sea. Infantile scurvy appeared almost as a new disease toward the end of the 19th century. The increased incidence of infantile scurvy during that period was attributed to the usage of heated milk and proprietary foods. Thomas Barlow described the classic clinical and pathologic features of infantile scurvy in 1883. Between 1907 and 1912, Holst and Frolich induced and cured scurvy in guinea pigs by dietary modification. In 1914, Alfred Hess established that pasteurization reduced the antiscorbutic value of milk and recommended supplementation of fresh fruit and vegetable juices to prevent scurvy. Such pioneering efforts led to the eradication of infantile scurvy in the United States. A brief history of infantile scurvy is provided. PMID:11581484

  14. Pyloric Sphincter Dysfunction in nNOS−/− and W/Wv Mutant Mice: Animal Models of Gastroparesis and Duodeno-gastric Reflux

    PubMed Central

    Sivarao, Digavalli V.; Mashimo, Hiroshi; Goyal, Raj K.

    2009-01-01

    Background and & Aims Nitrergic nerves and interstitial cells of Cajal (ICC) have been implicated in the regulation of pyloric motility. The purpose of these studies was to define their roles in pyloric function in vivo. Methods Pyloric sphincter manometry was performed in wild type (WT) controls, neuronal nitric oxide synthase deficient (nNOS−/−) and ICC deficient W/Wv mice, and the effect of deafferented cervical vagal stimulation was examined. Results Mice showed a distinct ~ 0.6 mm wide zone of high pressure at the antro-duodenal junction, representing the pyloric sphincter. In WT, the pylorus exhibited tonic active pressure of 12.4±1.6 mm Hg with superimposed phasic contractions. The motility indices, minute motility index (MMI) and the total myogenic activity (TMA) were reduced by vagal stimulation and the reduction was antagonized by nitric oxide synthase inhibitor, L-NAME. In nNOS−/− mice, pyloric basal tone, MMI and TMA were not significantly different from the controls, but vagal stimulation paradoxically increased pyloric motility. In contrast, the W/Wv mice had significantly reduced resting pyloric pressure that was suppressed by vagal stimulation in an L-NAME-sensitive manner. The stomachs of fasted nNOS−/− mice showed solid food residue and bezoar formation, while W/Wv mice showed bile reflux. Conclusion (1) In nNOS−/− mice, loss of nitrergic pyloric inhibition leads to gastric stasis and bezoars; (2) In contrast, basal pyloric hypotension with normal nitrergic inhibition predisposes W/Wv mice to duodeno-gastric bile reflux. PMID:18640116

  15. Isolation and characteristics of trypsin from pyloric ceca of the starfish Asterina pectinifera.

    PubMed

    Kishimura, Hideki; Hayashi, Kenji

    2002-06-01

    Trypsin was purified from pyloric ceca of the starfish Asterina Pectinifera by ammonium sulfate precipitation, gel filtration, and cation-exchange chromatography. Final enzyme preparation was nearly homogeneous in sodium dodecyl sulfate-polyacrylamide gel electrophoresis and its molecular weight was estimated as approximately 28000. Optimum pH and temperature of A. pectinifera trypsin for hydrolysis of N(alpha)-p-Tosyl-L-arginine methyl ester hydrochloride were approximately pH 8.0 and 55 degrees C, respectively. A. pectinifera trypsin was unstable at above 50 degrees C and below pH 5.0, and was not activated by adding Ca(2+). The N-terminal amino acid sequence of A. pectinifera trypsin, IVGGHEF, was found. PMID:12031475

  16. 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.

  17. Infantile refsum disease: case report.

    PubMed

    Choksi, Vaishali; Hoeffner, Ellen; Karaarslan, Ercan; Yalcinkaya, Cengiz; Cakirer, Sinan

    2003-01-01

    Infantile Refsum disease is a rare inborn error of phytanic acid metabolism. It is inherited in an autosomal recessive manner and frequently causes signs and symptoms in the neonate period. The only source of phytanic acid in humans is exogenous, from diet. We report the MR imaging findings in two cases of infantile Refsum disease and note the MR imaging changes that occurred over time because of further progression of the disease. The initial diagnosis in both patients was made on basis of history, clinical findings, and biochemical studies.

  18. 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

  19. 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.

  20. Topical modalities for treatment and prevention of postsurgical hypertrophic scars.

    PubMed

    Foo, Chong Wee; Tristani-Firouzi, Payam

    2011-08-01

    There is no universally accepted treatment regimen and no evidence-based literature to guide management of hypertrophic scars. This article summarizes the existing literature regarding topical treatments such as silicone gel sheeting and ointment, onion extract, vitamin E, pressure garment therapy, massage therapy, and topical imiquimod 5% cream in the management of hypertrophic scars.

  1. Topical modalities for treatment and prevention of postsurgical hypertrophic scars.

    PubMed

    Foo, Chong Wee; Tristani-Firouzi, Payam

    2011-08-01

    There is no universally accepted treatment regimen and no evidence-based literature to guide management of hypertrophic scars. This article summarizes the existing literature regarding topical treatments such as silicone gel sheeting and ointment, onion extract, vitamin E, pressure garment therapy, massage therapy, and topical imiquimod 5% cream in the management of hypertrophic scars. PMID:21856542

  2. Nemaline myopathy and non-fatal hypertrophic cardiomyopathy caused by a novel ACTA1 E239K mutation.

    PubMed

    Kim, Sun-Young; Park, Young-Eun; Kim, Hyang-Sook; Lee, Chang-Hoon; Yang, Dong Heon; Kim, Dae-Seong

    2011-08-15

    A twenty-year old male presented with diffuse limb muscle weakness and exertional dyspnea since childhood. The diagnosis of nemaline myopathy was given based on the muscle pathology findings that revealed nemaline rods on light and electron microscopy and discovery of a novel mutation, E239K, in ACTA1. Incidentally, the patient had hypertrophic cardiomyopathy (HCM) as shown by echocardiography. In nemaline myopathy, a few cases of HCM have been reported, albeit rarely and always fatal, but only one patient had ACTA1 mutation. This present report describes an infantile onset of nemaline myopathy with a milder clinical course and non-fatal HCM as compared with previous cases, showing clinical diversity in skeletal and cardiac manifestations of conditions associated with ACTA1 mutations. PMID:21570694

  3. Blepharoptosis and hypertrophic osteoarthropathy: A case report.

    PubMed

    Dogan, Aysun Sanal; Acaroglu, Gölge; Dikmetas, Ozlem

    2016-04-01

    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

  4. 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.

  5. Idiopathic Hypertrophic Pachymeningitis in the Craniocervical Junction

    PubMed Central

    Bang, Jin Hyuk; Kim, Eo Jin

    2015-01-01

    Idiopathic hypertrophic pachymeningitis (IHP) is a rare disease, and it is characterized by chronic progressive inflammatory fibrosis and thickening of the dura mater with resultant compression of the spinal cord or neural structure without any identifiable cause. It can occur in the intracranial or spinal dura mater alone or as a craniospinal form. The spinal form is rarer than the cranial form and the craniospinal form is extremely rare. We report a rare case of IHP in the craniocervical junction involving both the cranial and spinal dura mater and discuss the diagnosis and management of the disease. PMID:26512276

  6. 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

  7. Twice malignant transformation of hypertrophic lichen planus.

    PubMed

    Krasowska, Dorota; Kozłowicz, Katarzyna; Kowal, Małgorzata; Kurylcio, Andrzej; Budzyńska-Włodarczyk, Jolanta; Polkowski, Wojciech; Chodorowska, Grażyna

    2012-01-01

    Lichen planus is a chronic mucocutaneous T-cell-mediated disease, the cause of which remains unknown. The first case of lichen planus that transformed into squamous cell carcinoma was reported in 1903. The presented study concerns the case of a 62-year-old woman in whom twice malignant transformation of hypertrophic lichen planus in the dorsal part of the left foot developed. Several studies have pointed out the malignant transformation potential of lichen planus. Epidemiological studies from the last 20 years have revealed a malignant transformation rate of 0.27% per year, emphasizing the importance of the clinical follow-up of lichen planus patients.

  8. Lgr5-expressing stem cells are not the cells of origin of pyloric neuroendocrine carcinomas in mice.

    PubMed

    Vetter, Elena; Kronast, Mira; Tölge, Mariana; Zimmermann, Wolfgang

    2016-01-01

    In intestinal and pyloric epithelia, leucine-rich repeat-containing G protein-coupled receptor 5 (Lgr5)-expressing cells represent long-lived adult stem cells that give rise to all epithelial cell types, including endocrine cells. Ablation of the Apc gene in Lgr5-expressing cells leads to intestinal and pyloric adenomas. To assess whether all epithelial tumours of the gastrointestinal tract are derived from LGR5-positive stem cells, we crossed Lgr5-EGFP-IRES-creER(T2) mice, which express EGFP and Cre recombinase driven by the Lgr5 promoter, with CEA424-SV40-TAg mice, which develop pyloric neuroendocrine carcinomas of epithelial origin. In 19 day-old mice, single SV40 T antigen (TAg)-positive cells were identified preferentially at the the bases of pyloric glands, close to the stem cell compartment. However, contrary to previous publications describing subpopulations of LGR5-positive cells in gastrointestinal neoplasia, we could not detect Lgr5-EGFP-positive tumour cells in malignant lesions. The lack of expression of the Wnt target gene Lgr5 is probably not caused by suppression of Wnt signalling by TAg, since β-catenin-mediated Wnt signalling, as measured by the TOPflash assay, was not inhibited. To determine the cellular origin of CEA424-SV40-TAg tumours, we performed tracing experiments using Lgr5-EGFP-IRES-creERT2:CEA424-SV40-TAg:ROSA26-tdRFP mice. Following tamoxifen induction, it was possible to efficiently trace the progeny of Lgr5-expressing cells in gastrointestinal tissue via red fluorescent protein (RFP) expression. No RFP-positive tumour cells were detected, even when RFP gene activation occurred in 7 day-old mice well before the appearance of TAg-positive tumour cells. Hence, we conclude that Lgr5-expressing stem cells probably do not constitute the cells of origin in CEA424-SV40-TAg mice. Consequently, not all epithelial tumours in the pyloric region are initiated by transformation of LGR5-positive stem cells. Thus, additional long-lived LGR5

  9. 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.

  10. The effect of vagotomy on the distribution of sulphomucin-containing cells in the rat pyloric antrum.

    PubMed Central

    Kirkpatrick, C J

    1980-01-01

    The present histological investigation showed that bilateral truncal vagotomy (with accompanying pyloroplasty) reduced the sulphomucin-containing cell population of the pyloric antral mucosa of the rat stomach. Although this did not reach statistical significance (95% confidence limits), study of the absolute distribution of the sulphomucin-containing cells showed that significantly fewer of these cells were situated in the basal third of the mucosa as a result of the operation. A study of the percentage distribution revealed that a much higher percentage of sulphomucin-containing cells was present in the middle third of the mucosa in vagotomized rats than in the corresponding regions of the control stomachs. Thus, vagotomy and pyloroplasty had effected a redistribution of the sulphomucin-containing cells in the pyloric antrum. The possible explanation and significance of this finding are discussed. Images Fig. 1 PMID:7216911

  11. The Inhibitory Effect of Botulinum Toxin Type A on Rat Pyloric Smooth Muscle Contractile Response to Substance P In Vitro

    PubMed Central

    Shao, Yu-Feng; Xie, Jun-Fan; Ren, Yin-Xiang; Wang, Can; Kong, Xiang-Pan; Zong, Xiao-Jian; Fan, Lin-Lan; Hou, Yi-Ping

    2015-01-01

    A decrease in pyloric myoelectrical activity and pyloric substance P (SP) content following intrasphincteric injection of botulinum toxin type A (BTX-A) in free move rats have been demonstrated in our previous studies. The aim of the present study was to investigate the inhibitory effect of BTX-A on rat pyloric muscle contractile response to SP in vitro and the distributions of SP and neurokinin 1 receptor (NK1R) immunoreactive (IR) cells and fibers within pylorus. After treatment with atropine, BTX-A (10 U/mL), similar to [D-Arg1, D-Phe5, D-Trp7,9, Leu11]-SP (APTL-SP, 1 μmol/L) which is an NK1R antagonist, decreased electric field stimulation (EFS)-induced contractile tension and frequency, whereas, subsequent administration of APTL-SP did not act on contractility. Incubation with BTX-A at 4 and 10 U/mL for 4 h respectively decreased SP (1 μmol/L)-induced contractions by 26.64% ± 5.12% and 74.92% ± 3.62%. SP-IR fibers and NK1R-IR cells both located within pylorus including mucosa and circular muscle layer. However, fewer SP-fibers were observed in pylorus treated with BTX-A (10 U/mL). In conclusion, BTX-A inhibits SP release from enteric terminals in pylorus and EFS-induced contractile responses when muscarinic cholinergic receptors are blocked by atropine. In addition, BTX-A concentration- and time-dependently directly inhibits SP-induced pyloric smooth muscle contractility. PMID:26501321

  12. 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

  13. G-cell hyperplasia of the stomach induces ECL-cell proliferation in the pyloric glands in a paracrinal manner.

    PubMed

    Kasajima, Atsuko; Fujishima, Fumiyoshi; Morikawa, Takanori; Kawasaki, Shuhei; Konosu-Fukaya, Sachiko; Shibahara, Yukiko; Nakamura, Tadaho; Yoshikawa, Takeo; Iijima, Katsunori; Koike, Tomoyuki; Watanabe, Mika; Shibata, Chikashi; Sasano, Hironobu

    2015-05-01

    An inhibitory mechanism toward gastrin hypersecretion is significantly different between G-cell hyperplasia and gastrinoma despite the common clinical manifestations; hypergastrinemia and its related persistent gastric ulcers. We recenlty studied the G-cell, d-cell and ECL-cell density in a case of G-cell hyperplasia. The 70-year-old patient has been treated for persistent gastric ulcers with a markedly increased plasma gastrin (5600 pg/mL). The stomach was surgically resected because of the obstruction associated with ulcer scars. The number of G-cells in the pyloric glands was quantified on the surgical specimens and G-cell hyperplasia was histolopathologically identified. Immunostainig of histidine decarboxylate revealed the presence of ECL-cell hyperplasia in the pyloric glands and its density was significantly and positively correlated with G-cell density. Somatostatin immunoreactive cells (D-cells) increased in their number in the oxyntic glands. These results all indicated that hypersecretion of gastrin in G-cell hyperplasia could induce ECL-cell proliferation in a paracrinal manner. In addition, relatively non-prominent endocrinological features in the G-cell hyperplasia compared to gastrinoma could be also related to the paracrinal somatostatin inhibitory effects upon ECL-cells in the pyloric glands.

  14. Cushing's syndrome in pregnancy and neonatal hypertrophic obstructive cardiomyopathy.

    PubMed

    Fayol, L; Masson, P; Millet, V; Simeoni, U

    2004-10-01

    Cushing's syndrome is rare in pregnancy but can cause spontaneous abortion, stillbirth or premature birth. We report a case of transient hypertrophic obstructive cardiomyopathy in a newborn whose mother had hypercortisolism due to a primary adrenal lesion. There was no family history of hypertrophic obstructive cardiomyopathy. Follow-up revealed complete resolution of the cardiac abnormalities in the infant. Cushing's syndrome in the mother resolved after delivery. Although maternal hypercortisolism seldom results in symptomatic hypercortisolism in the newborn, hypertrophic obstructive cardiomyopathy can occur. PMID:15499965

  15. 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.

  16. 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

  17. Proteome analysis of pyloric ceca: a methodology for fish feed development?

    PubMed

    Wulff, Tune; Petersen, Jørgen; Nørrelykke, Mette R; Jessen, Flemming; Nielsen, Henrik H

    2012-08-29

    Changing the protein source of fish feed from fish meal to alternative sources of protein will affect traits such as fish growth, quality, and feed utilization. The present investigation was initiated to introduce a two-dimensional gel electrophoresis based proteomic workflow as a tool to investigate feed effects on fish by analyzing protein changes in the fish gut. The workflow was used to study the effect of substituting fish meal in fish feed by alternative sources of protein. Rainbow trout divided into five groups were fed for 72 days with feeds varying in protein composition. By two-dimensional gel electrophoresis proteins extracted from the pyloric ceca were separated, making it possible to measure the abundance of more than 440 protein spots. The expression of 41 protein spots was found to change due to differences in feed composition. By mass spectrometry 31 of these proteins were identified, including proteins involved in digestion (trypsinogen, carboxylic ester hydrolase, and aminopeptidase). The many expression changes indicated that the trout, when adapting to differences in feed formulation, alter the protein composition of the gut.

  18. Plexiform schwannoma of the duodenum accompanying pyloric stenosis: report of a case.

    PubMed

    Aktekın, Ali; Özkara, Selvinaz; Merıç, Kaan; Günay Gürleyık, Meryem; Aker, Fügen; Sağlam, Abdullah

    2012-08-01

    Plexiform schwannoma is a benign peripheral nerve sheath tumor and is composed of Schwann cells arranged in a plexiform pattern. Most plexiform schwannomas are skin tumors, and there has been no case report of this tumor originating in the duodenum. We describe the first known case of plexiform schwannoma of the duodenum. A 60-year-old man presented with a short history of food intolerance, epigastric discomfort, fullness and bloatedness, sometimes vomiting, and weight loss, without any clinical picture of neurofibromatosis. Upper gastrointestinal endoscopy revealed pyloric stenosis with normal mucosal lining. The computed tomography demonstrated circumferentially and concentrically thickened pylorus up to 18 mm with narrowed lumen and limited contrast passage. Antrectomy and gastrojejunostomy were performed due to unknown etiology of the obstruction. The cut surface of the lesion revealed thickened pylorus up to 15 mm in a circumferential manner. It contained a 5 mm tumor consisted of multiple white nodules in the submucosal and subserosal layers with overlying duodenal mucosa. Microscopic examination revealed nodular structures composed of spindle cells within fascicular pattern without any atypia or mitosis. Immunohistochemical examination revealed that the cells diffusely and strongly expressed S100 proteins in a nuclear and cytoplasmic pattern, but not CD117, smooth muscle actin, desmin, or CD34, confirming plexiform schwannoma. PMID:22965512

  19. 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+. PMID:1795238

  20. Is there a role for pyloric exclusion after severe duodenal trauma?

    PubMed

    Cruvinel Neto, José; Pereira, Bruno Monteiro Tavares; Ribeiro, Marcelo Augusto Fontenelle; Rizoli, Sandro; Fraga, Gustavo Pereira; Rezende-Neto, João Baptista

    2014-01-01

    Duodenal trauma is an infrequent injury, but linked to high morbidity and mortality. Surgical management of duodenal injuries is dictated by: patient's hemodynamic status, injury severity, time of diagnosis, and presence of concomitant injuries. Even though most cases can be treated with primary repair, some experts advocate adjuvant procedures. Pyloric exclusion (PE) has emerged as an ancillary method to protect suture repair in more complex injuries. However, the effectiveness of this procedure is debatable. The "Evidence Based Telemedicine - Trauma & Acute Care Surgery" (EBT-TACS) Journal Club performed a critical appraisal of the literature and selected three relevant publications on the indications for PE in duodenal trauma. The first study retrospectively compared 14 cases of duodenal injuries greater than grade II treated by PE, with 15 cases repaired primarily, all of which penetrating. Results showed that PE did not improve outcome. The second study, also retrospective, compared primary repair (34 cases) with PE (16 cases) in blunt and penetrating grade > II duodenal injuries. The authors concluded that PE was not necessary in all cases. The third was a literature review on the management of challenging duodenal traumas. The author of that study concluded that PE is indicated for anastomotic leak management after gastrojejunostomies. In conclusion, the choice of the surgical procedure to treat duodenal injuries should be individualized. Moreover, there is insufficient high quality scientific evidence to support the abandonment of PE in severe duodenal injuries with extensive tissue loss. PMID:25140657

  1. The molecular basis of hypertrophic scars.

    PubMed

    Zhu, Zhensen; Ding, Jie; Tredget, Edward E

    2016-01-01

    Hypertrophic scars (HTS) are caused by dermal injuries such as trauma and burns to the deep dermis, which are red, raised, itchy and painful. They can cause cosmetic disfigurement or contractures if craniofacial areas or mobile region of the skin are affected. Abnormal wound healing with more extracellular matrix deposition than degradation will result in HTS formation. This review will introduce the physiology of wound healing, dermal HTS formation, treatment and difference with keloids in the skin, and it also review the current advance of molecular basis of HTS including the involvement of cytokines, growth factors, and macrophages via chemokine pathway, to bring insights for future prevention and treatment of HTS. PMID:27574672

  2. [Pathogenesis of infantile cerebral palsy].

    PubMed

    Semenova, K A

    1980-01-01

    Some causes of the pathological activity of postural reflexes and other motor disturbances underlying the clinical picture of infantile cerebral paralysis are considered. It is shown that disturbed metabolism of corticosteroids observed in that disease, as well as impaired functional activity of T lymphocytes promote the development of both inflammatory and neuroimmune processes in the brain, mainly in large hemispheres--and this may be one of the causes of the pathological postural activity. PMID:6969015

  3. Oral immunization of rainbow trout to infectious pancreatic necrosis virus (Ipnv) induces different immune gene expression profiles in head kidney and pyloric ceca.

    PubMed

    Ballesteros, Natalia A; Saint-Jean, Sylvia S Rodriguez; Encinas, Paloma A; Perez-Prieto, Sara I; Coll, Julio M

    2012-08-01

    Induction of neutralizing antibodies and protection by oral vaccination with DNA-alginates of rainbow trout Oncorhynchus mykiss against infectious pancreatic necrosis virus (IPNV) was recently reported. Because orally induced immune response transcript gene profiles had not been described yet neither in fish, nor after IPNV vaccination, we studied them in head kidney (an immune response internal organ) and a vaccine entry tissue (pyloric ceca). By using an oligo microarray enriched in immune-related genes validated by RTqPCR, the number of increased transcripts in head kidney was higher than in pyloric ceca while the number of decreased transcripts was higher in pyloric ceca than in head kidney. Confirming previous reports on intramuscular DNA vaccination or viral infection, mx genes increased their transcription in head kidney. Other transcript responses such as those corresponding to interferons, their receptors and induced proteins (n=91 genes), VHSV-induced genes (n=25), macrophage-related genes (n=125), complement component genes (n=176), toll-like receptors (n=31), tumor necrosis factors (n=32), chemokines and their receptors (n=121), interleukines and their receptors (n=119), antimicrobial peptides (n=59), and cluster differentiation antigens (n=58) showed a contrasting and often complementary behavior when head kidney and pyloric ceca were compared. For instance, classical complement component transcripts increased in head kidney while only alternative pathway transcripts increased in pyloric ceca, different β-defensins increased in head kidney but remained constant in pyloric ceca. The identification of new gene markers on head kidney/pyloric ceca could be used to follow up and/or to improve immunity during fish oral vaccination.

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

    PubMed Central

    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. PMID:27721721

  5. [Infantile autism, psychoanalytic research and scientific status].

    PubMed

    Golse, B

    1993-01-01

    After emphasizing the very modern aspect of psychoanalytic epistemology, the author shows how psychoanalytical research applied to the issue of infantile autism concentrates the maximum of difficulties and is therefore vulnerable to critics from the "hard" sciences. Some tentative answers are proposed in reference to the narrative sciences. The author then suggests various tracks for the psychoanalytical research in the field of infantile autism.

  6. Inhibited early immunologic response is associated with hypertrophic scarring.

    PubMed

    Butzelaar, Liselotte; Schooneman, Dennis P M; Soykan, Ezgi A; Talhout, Wendy; Ulrich, Magda M W; van den Broek, Lenie J; Gibbs, Susan; Beelen, Robert H J; Mink van der Molen, Aebele B; Niessen, Frank B

    2016-10-01

    This study aimed to examine changes in the inflammatory response in early hypertrophic compared to normal wound healing. The immune system is thought to be involved in hypertrophic scar formation. However, the exact mechanism and time of onset of the derailment remain unknown. In a prospective observational study, skin biopsies were taken directly postwounding and 3 hours later from patients who had elective cardiothoracic surgery. The skin biopsies were analysed for mRNA, proteins and cells involved in the early inflammatory phase of wound healing. The endpoint was scar outcome (hypertrophic (HTS) or normal (NTS)) at one year after surgery. There were significant differences between the NTS and HTS groups regarding the fold changes of mRNA expression of P-selectin during surgery. Postoperative skin concentrations of inflammatory proteins IL-6, IL-8 and CCL2 were significantly lower in the HTS compared to the NTS group. Also, a trend of higher pre-operative M2 macrophage numbers was observed in the HTS group. Neutrophil numbers increased equally during surgery in both groups. The increase of P-selectin mRNA in hypertrophic wound healing could affect leucocyte migration. The decreased concentrations of inflammatory proteins in hypertrophic wound healing indicate a reduced inflammatory response, which has consequences for the treatment of hypertrophic scarring during the early inflammatory phase. In a conclusion, alterations of wound healing associated with hypertrophic scarring are visible as early as 3 hours postwounding and include a reduced rather than increased inflammatory protein response. PMID:27249786

  7. 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

  8. 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

  9. 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.

  10. Motilin-immunoreactive cells in the duodenum, pyloric stomach and pancreas of caimans (Caiman latirostris and Caiman crocodilus, alligatorinae): a further comparison using region-specific motilin antisera.

    PubMed

    Yamada, J; Rodrigues, M A; Kitamura, N; Pai, V D; Yamashita, T; Motizuki, T; Yanaihara, N

    1991-07-01

    Motilin-immunoreactive cells in the duodenum, pyloric stomach and pancreas of Caiman latirostris and Caiman crocodilus were investigated using region specific antisera for porcine and canine motilin molecules. Motilin-immunoreactive cells were found in the duodenum, pyloric stomach and pancreas of both caiman species. These cells were primarily open-type endocrine ones in the epithelium of the duodenum and pyloric stomach. Motilin-immunoreactive cells were observed in both the exocrine and endocrine portions of the pancreas, and frequently exhibited one or more cytoplasmic processes of variable length. Since motilin-immunoreactive cells do not cross-react with serotonin or any of the other pancreatic and gut hormones, they are considered to be cell type independent from any of the other known pancreatic or gut endocrine cells. The molecular similarity between caiman motilin and porcine and canine motilins and the heterogeneity of the motilin molecule in the caiman digestive system is discussed.

  11. 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

  12. Infantile Colic: Recognition and Treatment.

    PubMed

    Johnson, Jeremy D; Cocker, Katherine; Chang, Elisabeth

    2015-10-01

    Infantile colic is a benign process in which an infant has paroxysms of inconsolable crying for more than three hours per day, more than three days per week, for longer than three weeks. It affects approximately 10% to 40% of infants worldwide and peaks at around six weeks of age, with symptoms resolving by three to six months of age. The incidence is equal between sexes, and there is no correlation with type of feeding (breast vs. bottle), gestational age, or socioeconomic status. The cause of infantile colic is not known; proposed causes include alterations in fecal microflora, intolerance to cow's milk protein or lactose, gastrointestinal immaturity or inflammation, increased serotonin secretion, poor feeding technique, and maternal smoking or nicotine replacement therapy. Colic is a diagnosis of exclusion after a detailed history and physical examination have ruled out concerning causes. Parental support and reassurance are key components of the management of colic. Simethicone and proton pump inhibitors are ineffective for the treatment of colic, and dicyclomine is contraindicated. Treatment options for breastfed infants include the probiotic Lactobacillus reuteri (strain DSM 17938) and reducing maternal dietary allergen intake. Switching to a hydrolyzed formula is an option for formula-fed infants. Evidence does not support chiropractic or osteopathic manipulation, infant massage, swaddling, acupuncture, or herbal supplements. PMID:26447441

  13. Skeletal manifestations of infantile scurvy.

    PubMed

    Brickley, Megan; Ives, Rachel

    2006-02-01

    Recent investigations of human skeletal material from the historic St. Martin's cemetery, England, found a range of abnormal lesions in six infants that are almost certainly related to scurvy. Porous and proliferative bone lesions affecting the cranial bones and scapulae were found, and this paper presents images obtained using both macroscopic and scanning electron microscope examination of the lesions. Previous work on infantile scurvy (Ortner et al., 1997-2001) relied heavily on changes at the sphenoid, which is often missing in archaeological bone, so the identification of changes attributable to scurvy on other cranial bones and the scapulae is encouraging. The ability to recognize changes related to scurvy on a range of bones will ensure an enhanced potential for recognition of this disease in future research involving archaeological bone. Research on historical documents from Birmingham dating to the eighteenth and nineteenth centuries, combined with the probable cases of scurvy identified, supports the view that the paucity of cases of infantile scurvy from the archaeological record reflects a lack of understanding and recognition of bone manifestations, rather than a lack of occurrence in this period. Changes linked to scurvy were only found in infants from the poorer sections of the community from St. Martin's, and this is almost certainly linked to patterns of food consumption and may be related to shortages of potatoes, due to blight, experienced during this period.

  14. Hypertrophic scarring: the greatest unmet challenge after burn injury.

    PubMed

    Finnerty, Celeste C; Jeschke, Marc G; Branski, Ludwik K; Barret, Juan P; Dziewulski, Peter; Herndon, David N

    2016-10-01

    Improvements in acute burn care have enabled patients to survive massive burns that would have once been fatal. Now up to 70% of patients develop hypertrophic scars after burns. The functional and psychosocial sequelae remain a major rehabilitative challenge, decreasing quality of life and delaying reintegration into society. Approaches to optimise healing potential of burn wounds use targeted wound care and surgery to minimise the development of hypertrophic scarring. Such approaches often fail, and modulation of the established scar is continued although the optimal indication, timing, and combination of therapies have yet to be established. The need for novel treatments is paramount, and future efforts to improve outcomes and quality of life should include optimisation of wound healing to attenuate or prevent hypertrophic scarring, well-designed trials to confirm treatment efficacy, and further elucidation of molecular mechanisms to allow development of new preventive and therapeutic strategies.

  15. Hypertrophic olivary degeneration and cerebrovascular disease: movement in a triangle.

    PubMed

    Santos, Ana Filipa; Rocha, Sofia; Varanda, Sara; Pinho, João; Rodrigues, Margarida; Ramalho Fontes, João; Soares-Fernandes, João; Ferreira, Carla

    2015-02-01

    Hypertrophic olivary degeneration is a rare kind of trans-synaptic degeneration that occurs after lesions of the dentatorubro-olivary pathway. The lesions, commonly unilateral, may result from hemorrhage due to vascular malformation, trauma, surgical intervention or hypertension, tumor, or ischemia. Bilateral cases are extremely rare. This condition is classically associated with development of palatal tremor, but clinical manifestations can include other involuntary movements. We describe 2 cases: unilateral hypertrophic olivary degeneration in a 60-year-old man with contralateral athetosis and neurologic worsening developing several years after a pontine hemorrhage and bilateral hypertrophic olivary degeneration in a 77-year-old woman with development of palatal tremor, probably secondary to pontine ischemic lesions (small vessel disease).

  16. [Scarlet fever with multisystem organ failure and hypertrophic gastritis].

    PubMed

    Sandrini, J; Beucher, A-B; Kouatchet, A; Lavigne, C

    2009-05-01

    Scarlet fever is a rare disease in adult patients. We report a patient in whom scarlet fever was associated with hypertrophic gastritis and multiple organ failure. A 62-year-old woman presented with septic shock and multiple organ failure. Bacteriological survey was negative. Abdominal tomodensitometry showed an hypertrophic gastritis. Histological analysis demonstrated a non specific gastritis without any tumoral sign. Cefotaxime and amoxicillin led to improvement and hypertrophic gastritis progressively resolved. A sandpaper rash over the body with finger desquamation, elevation of antistreptolysin O and a recent contact with an infected grandson led to the diagnosis of scarlet fever. Due to antibiotic prescription, scarlet fever is now uncommon. Although classical, ENT or gastroenteritis presentations may be puzzling for the diagnosis of scarlet fever. As 150 years ago, diagnosis of scarlet fever is still a clinical challenge.

  17. Echocardiography in the treatment of hypertrophic cardiomyopathy.

    PubMed

    Musat, Dan; Sherrid, Mark V

    2006-12-01

    Echocardiography is the best technique to diagnose, evaluate, follow-up and guide the treatment of hypertrophic cardiomyopathy (HCM). Diagnosis of HCM depends on left ventricular wall thickness >/=15 mm. Also noted are mitral valve systolic anterior motion, anteriorly positioned mitral valve leaflet coaptation, anomalous anterior insertion of papillary muscles, and diastolic dysfunction. Resting left ventricular outflow tract (LVOT) gradient occurs in 25% of patients and provocable gradients may be demonstrated in more than half of patients. Echocardiography is important for sudden death risk assessment; patients with a wall thickness more than 30 mm have a higher risk of sudden cardiac death, as often as 2%/year. Two thirds of the symptomatic obstructed patients can be successfully managed long term with medical treatment alone (beta-blockers, disopyramide, verapamil) guided by transthoracic echocardiography (TTE) response and follow-up. Obstructed patients, who fail medical therapy, are usually offered invasive treatment: surgical septal myectomy, alcohol septal ablation, or DDD pacemaker. Preoperative TTE is a necessary guide for the surgeon in planning the operation. It gives the surgeon precise measurements of septal thickness, mitral valve leaflets length and floppiness and papillary muscle anomalies. Intraoperative transesophageal echocardiography is a very important tool for evaluating surgical results. Persistent SAM, resting outflow gradient more than 30 mm Hg or more than 50 mmHg with provocation, moderate to severe mitral regurgitation are indications for immediate revision. For patients >40 years old, and also not suitable for surgery because of comorbidities, alcohol septal ablation is viable alternative therapy for relief of obstruction and improvement of symptoms. Echocardiography is a valuable tool to choose the site of ablation (using myocardial contrast echocardiography), as well as for evaluation of results.

  18. Surviving competitive athletics with hypertrophic cardiomyopathy.

    PubMed

    Maron, B J; Klues, H G

    1994-06-01

    Hypertrophic cardiomyopathy (HC) is probably the most common cause of sudden cardiac death in youthful athletes, and this diagnosis has represented a contraindication to continued participation in competitive sports. Less well appreciated is the fact that within the clinical spectrum of HC are patients who, despite having this disease, have been able to undertake particularly intensive and often extraordinary levels of training for sports competition over many years without dying suddenly. Fourteen such patients (13 men and 1 woman, aged 30 to 66 years [mean 43]) form the present study group. HC was initially identified at 24 to 57 years of age (mean 34), usually under fortuitous circumstances. Patients most often competed in distance running (including the marathon, 7), but also in swimming, triathalon, basketball, and football. The duration of training ranged from 6 to 22 years (mean 15) and 5 continue to train and compete actively. The magnitude of training, competition, and achievement was considerable in most patients; 12 of the 14 performed either at the national, collegiate or professional level in their sport, completed numerous marathon and triathalon events, or sustained particularly rigorous training regimens of > or = 50 miles/week. Echocardiographic studies demonstrated a left ventricular wall thickness of 18 to 28 mm (mean 20) in most patients (12 of 14) having a relatively localized pattern of ventricular septal hypertrophy. It is possible for some patients with HC to tolerate particularly intense athletic training and competition for many years, and even maintain high levels of achievement without incurring symptoms and disease progression or dying suddenly.(ABSTRACT TRUNCATED AT 250 WORDS)

  19. 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)

  20. [Hypertrophic scars and keloids: which therapeutic options today?].

    PubMed

    Gailloud-Matthieu, M C; Raffoul, W; Egloff, D V

    1999-09-01

    Hypertrophic scars and keloids are a hyperproliferative response of connective tissue to trauma. Histologically the difference between the two is that keloids invade normal tissue whereas hypertrophic scars remain confined within the original wound. A variety of treatments have been proposed, which we will review according to their efficiency. Prevention of pathological scarring will also be discussed, and we will present our current attitude to treat these scars. As a surgical treatment for keloids, we have been using the intralesional technique which we think gives better results.

  1. 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.

  2. Hypertrophic cardiomyopathy. Tools for identifying risk and alleviating symptoms.

    PubMed

    DeLuca, M; Tak, T

    2000-06-01

    Hypertrophic cardiomyopathy is characterized by left or right ventricular hypertrophy that is usually asymmetric and involves the interventricular septum. The condition has numerous genetic, anatomic, and clinical variations and continues to stimulate interest and investigation into causes and treatment options. New genetic forms of the disorder are being identified because of the rapid growth of molecular genetics. However, even with technological advances and a large database of information, risk stratification and treatment of hypertrophic cardiomyopathy remain difficult and controversial. Because of the high risk of sudden death, it is imperative that patients be advised against participation in competitive sports.

  3. [Left ventricular hypertrophy in the cat - "when hypertrophic cardiomyopathy is not hypertrophic cardiomyopathy"].

    PubMed

    Glaus, T; Wess, G

    2010-07-01

    According to WHO classification hypertrophic cardiomyopathy (HCM) is a primary genetic cardiomyopathy. Echocardiographically HCM is characterized by symmetric, asymmetric or focal left ventricular hypertrophy (LVH) without recognizable underlying physical cause. However, echocardiographically HCM in cats may not be distinguishable from other causes of a thick appearing left ventricle. Hypovolemia can look like a hypertrophied ventricle but is basically only pseudohypertrophic. Well recognized and logical physical causes of LVH include systemic hypertension and outflow obstruction. LVH similar to HCM may also be found in feline hyperthyroidism. The context of the disease helps to differentiate these physical / physiological causes of LVH. Difficult to distinguish from HCM, particularly when based on a snapshot of a single echocardiographic exam, are myocarditis and . Only the clinical and echocardiographic course allow a reasonably confident etiological diagnosis and the differentiation between HCM and secondary LVH. PMID:20582898

  4. 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.

  5. Infantile hemangiomas, complications and treatments.

    PubMed

    Cheng, Carol Erin; Friedlander, Sheila Fallon

    2016-03-01

    Infantile hemangiomas (IHs) are the most common vascular tumors of infancy. While the majority regress without the need for intervention, approximately 10%, often site dependent, can cause serious complications and require treatment. IH complications can be categorized as life threatening, obstructive, ulcerative or disfiguring. Life threatening complications include airway and hepatic IHs. Functional complications obstructing vital structures or impairing function include periocular, nasal, labial, parotid, auricular, and breast IHs. Local complications arise from ulceration or those in cosmetically sensitive areas. Therapeutic options for complicated IHs include pharmacologic (topical or systemic), surgical, or laser interventions. Topical agents are best employed for small, superficial, and localized IHs; while systemic therapy is reserved for larger IHs and those with more aggressive growth characteristics with propranolol as first-line therapy. PMID:27607318

  6. 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. PMID:617576

  7. 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. PMID:17452811

  8. Process of Hypertrophic Scar Formation: Expression of Eukaryotic Initiation Factor 6

    PubMed Central

    Yang, Qing-Qing; Yang, Si-Si; Tan, Jiang-Lin; Luo, Gao-Xing; He, Wei-Feng; Wu, Jun

    2015-01-01

    Background: Hypertrophic scar is one of the most common complications and often causes the disfigurement or deformity in burn or trauma patients. Therapeutic methods on hypertrophic scar treatment have limitations due to the poor understanding of mechanisms of hypertrophic scar formation. To throw light on the molecular mechanism of hypertrophic scar formation will definitely improve the outcome of the treatment. This study aimed to illustrate the negative role of eukaryotic initiation factor 6 (eIF6) in the process of human hypertrophic scar formation, and provide a possible indicator of hypertrophic scar treatment and a potential target molecule for hypertrophic scar. Methods: In the present study, we investigated the protein expression of eIF6 in the human hypertrophic scar of different periods by immunohistochemistry and Western blot analysis. Results: In the hypertrophic scar tissue, eIF6 expression was significantly decreased and absent in the basal layer of epidermis in the early period, and increased slowly and began to appear in the basal layer of epidermis by the scar formation time. Conclusions: This study confirmed that eIF6 expression was significantly related to the development of hypertrophic scar, and the eIF6 may be a target molecule for hypertrophic scar control or could be an indicator of the outcomes for other treatment modalities. PMID:26481747

  9. Hypertrophic Osteoarthropathy Presenting as Unilateral Cellulitis with Successful Treatment Using Pamidronate Disodium

    PubMed Central

    Bernardo, Sebastian G.; Burnett, Mark E.; Gordon, Marsha

    2012-01-01

    Hypertrophic pulmonary osteoarthropathy is a paraneoplastic syndrome seen in patients with lung cancer. This condition is characterized by the presence of digital clubbing, periosteal thickening, synovial thickening, and severe pain of the affected joints. Other syndromes exhibiting clubbing may or may not have underlying diseases causing their manifestation. An example is primary hypertrophic osteoarthropathy, or pachydermoperiostosis. While clubbing makes up part of the clinical picture in both hypertrophic pulmonary osteoarthropathy and hypertrophic osteoarthropathy, the latter has no underlying disease associations. Rather, primary hypertrophic osteoarthropathy is familial, idiopathic, and has a chronic course often beginning during puberty in males. Secondary hypertrophic osteoarthropathy is an acquired form of clubbing that is classically associated with lung disease. However, it has also been associated with diseases of the heart, liver, and intestines. In the setting of pulmonary malignancy, secondary hypertrophic osteoarthropathy is known as hypertrophic pulmonary osteoarthropathy. Hypertrophic pulmonary osteoarthropathy has a distinct constellation of clinical findings that includes intractable pain often refractory to treatments other than resolution of the underlying disease process. The authors herein report a case of hypertrophic pulmonary osteoarthropathy masquerading as recurrent lower extremity cellulitis with chronic hand and foot pain in the setting of pulmonary malignancy that responded dramatically to intravenous pamidronate disodium (a bisphosphonate). Given the rarity of hypertrophic osteoarthropathy associated with lung cancer and the difficulty with pain management in such circumstances, the authors present the following case in which pain was mitigated by treatment with bisphosphonate therapy. PMID:23050033

  10. The Influence of Antral Ulcers on Intramural Gastric Nerve Projections Supplying the Pyloric Sphincter in the Pig (Sus scrofa domestica)—Neuronal Tracing Studies

    PubMed Central

    Zalecki, Michal

    2015-01-01

    Background Gastric ulcerations in the region of antrum pylori represent a serious medical problem in humans and animals. Such localization of ulcers can influence the intrinsic descending nerve supply to the pyloric sphincter. The pyloric function is precisely regulated by intrinsic and extrinsic nerves. Impaired neural regulation could result in pyloric sphincter dysfunction and gastric emptying malfunction. The aim of the study was to determine the effect of gastric antral ulcerations on the density and distribution of intramural gastric descending neurons supplying the pyloric sphincter in pigs. Methodology/Principal Findings The experiment was performed on 2 groups of pigs: healthy gilts (n=6) and gilts with experimentally induced peptic ulcers in the region of antrum pylori (n=6). Gastric neurons supplying pyloric sphincter were labeled using the retrograde neuronal tracing technique (20μl of Fast Blue tracer injected into the pyloric sphincter muscle). After a week survival period the animals were sacrificed and the stomachs were collected. Then, the stomach wall was cross-cut into 0.5cm thick sections taken in specified intervals (section I - 1.5cm; section II - 3.5cm; section III - 5.5cm; section IV – 7.5cm) starting from the sphincter. Consecutive microscopic slices prepared from each section were analyzed under fluorescent microscope to count traced neurons. Obtained data were statistically analyzed. The total number of FB-positive perikarya observed within all studied sections significantly decreased from 903.3 ± 130.7 in control to 243.8 ± 67.3 in experimental animals. In healthy pigs 76.1 ± 6.7% of labeled neurons were observed within the section I, 23.53 ± 6.5% in section II and only occasional cells in section III. In experimental animals, as many as 93.8 ± 2.1% of labeled cells were observed within the section I and only 6.2 ± 2.2% in section II, while section III was devoid of such neurons. There were no traced perikarya in section IV

  11. Regulation of Cardiac Hypertrophic Signaling by Prolyl Isomerase Pin1

    PubMed Central

    Toko, Haruhiro; Konstandin, Mathias H.; Doroudgar, Shirin; Ormachea, Lucia; Joyo, Eri; Joyo, Anya Y.; Din, Shabana; Gude, Natalie A.; Collins, Brett; Völkers, Mirko; Thuerauf, Donna J.; Glembotski, Christopher C.; Chen, Chun-Hau; Lu, Kun Ping; Müller, Oliver J.; Uchida, Takafumi; Sussman, Mark A.

    2013-01-01

    Rationale Cardiac hypertrophy results from the complex interplay of differentially regulated cascades based upon the phosphorylation status of involved signaling molecules. While numerous critical regulatory kinases and phosphatases have been identified in the myocardium, the intracellular mechanism for temporal regulation of signaling duration and intensity remains obscure. In the non-myocyte context, control of folding, activity, and stability of proteins is mediated by the prolyl isomerase Pin1, but the role of Pin1 in the heart is unknown. Objective To establish the role of Pin1 in the heart. Methods and Results Here we show that either genetic deletion or cardiac over-expression of Pin1 blunts hypertrophic responses induced by transaortic constriction and consequent cardiac failure in vivo. Mechanistically, we find that Pin1 directly binds to Akt, MEK and Raf-1 in cultured cardiomyocytes following hypertrophic stimulation. Furthermore, loss of Pin1 leads to diminished hypertrophic signaling of Akt and MEK, while over-expression of Pin1 increases Raf-1 phosphorylation on the auto-inhibitory site Ser259 leading to reduced MEK activation. Conclusions Collectively, these data support a role for Pin1 as a central modulator of the intensity and duration of two major hypertrophic signaling pathways, thereby providing a novel target for regulation and control of cardiac hypertrophy. PMID:23487407

  12. 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…

  13. Difficulty of diagnosing infected hypertrophic pseudarthrosis by radionuclide imaging

    SciTech Connect

    Hadjipavlou, A.; Lisbona, R.; Rosenthall, L.

    1983-02-01

    Hypertrophic pseudarthrosis was studied with /sup 99m/Tc MDP and /sup 67/Ga citrate in 11 patients. Two of the 11 pseudarthroses were complicated by infection. A high concentration of both radiopharmaceuticals was obtained at all 11 sites and their distribution patterns were identical. It was therefore impossible to distinguish the infected from the noninfected pseudarthroses by using /sup 67/Ga.

  14. Hypertrophic osteopathy associated with a renal adenoma in a cat.

    PubMed

    Johnson, Robert L; Lenz, Stephen D

    2011-01-01

    Hypertrophic osteopathy is a hyperostotic syndrome of the appendicular skeleton that is most commonly associated with intrathoracic neoplasia or inflammation. The condition is rarely associated with intra-abdominal lesions. The majority of cases have occurred in dogs and human beings, with fewer cases reported in cats, horses, and other species. A 15-year-old male neutered Domestic Shorthair cat presented for swollen limbs and difficulty in ambulation. Radiographs and gross postmortem revealed severe periosteal hyperostosis of the diaphysis and metaphysis of all 4 limbs, including the humerus, radius, ulna, carpi, metacarpi, femur, tibia, tarsi, metatarsi, and phalanges. The axial skeleton was spared. Hyperostotic lesions were characterized microscopically by lamellar bony trabeculae separated by adipocytes and scant hematopoietic tissue. In several areas, fibrovascular connective tissue, woven bone, and islands of cartilage were also present. A 2.5 cm × 2.5 cm perirenal neoplasm compressed the left kidney and adrenal gland. This mass consisted of well-differentiated tubules of cuboidal epithelial cells and was most consistent with a renal tubular adenoma, because mitotic figures were rare, and no distant metastases were found. Thoracic pathology was absent. Hyperostosis was consistent with hypertrophic osteopathy secondary to the renal adenoma. The pathogenesis of hypertrophic osteopathy is uncertain, but predominant theories point to increased peripheral circulation and angiogenesis as a key initiating event. Recent literature highlights the potential role of vascular endothelial growth factor and platelet-derived growth factor in the human condition. The mechanism by which this renal adenoma caused hypertrophic osteopathy is unknown.

  15. Inflammation and impaired adipogenesis in hypertrophic obesity in man.

    PubMed

    Gustafson, Birgit; Gogg, Silvia; Hedjazifar, Shahram; Jenndahl, Lachmi; Hammarstedt, Ann; Smith, Ulf

    2009-11-01

    Obesity is associated mainly with adipose cell enlargement in adult man (hypertrophic obesity), whereas the formation of new fat cells (hyperplastic obesity) predominates in the prepubertal age. Adipose cell size, independent of body mass index, is negatively correlated with whole body insulin sensitivity. Here, we review recent findings linking hypertrophic obesity with inflammation and a dysregulated adipose tissue, including local cellular insulin resistance with reduced IRS-1 and GLUT4 protein content. In addition, the number of preadipocytes in the abdominal subcutaneous adipose tissue capable of undergoing differentiation to adipose cells is reduced in hypertrophic obesity. This is likely to promote ectopic lipid accumulation, a well-known finding in these individuals and one that promotes insulin resistance and cardiometabolic risk. We also review recent results showing that TNFα, but not MCP-1, resistin, or IL-6, completely prevents normal adipogenesis in preadipocytes, activates Wnt signaling, and induces a macrophage-like phenotype in the preadipocytes. In fact, activated preadipocytes, rather than macrophages, may completely account for the increased release of chemokines and cytokines by the adipose tissue in obesity. Understanding the molecular mechanisms for the impaired preadipocyte differentiation in the subcutaneous adipose tissue in hypertrophic obesity is a priority since it may lead to new ways of treating obesity and its associated metabolic complications.

  16. Hypertrophic osteoarthropathy as a clinical manifestation of lung cancer.

    PubMed

    Davis, Melissa C; Sherry, Victoria

    2011-10-01

    Hypertrophic osteoarthropathy is a paraneoplastic syndrome most often found in non-small cell lung cancer. Diagnosis is confirmed by the presence of clubbing on physical examination and periostitis on bone scintigram, and the syndrome generally resolves with treatment of the underlying malignancy. This article presents a case study and describes symptom management options, including nonsteroidal anti-inflammatory agents, octreotide, and bisphosphonates.

  17. 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.

  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. Clinical, haematological and biochemical findings and the results of treatment in cattle with acute functional pyloric stenosis.

    PubMed

    Braun, U; Steiner, A; Kaegi, B

    1990-02-01

    The clinical features and changes in blood and rumen fluid, and the results of therapy are described in 10 cows suffering from acute functional pyloric stenosis. The general condition of the cows was moderately to severely disturbed. The abdomen of most of them was distended on one or both sides and the rumen was excessively full. Defecation was reduced or absent. In most of them there was moderate or severe abomasal reflux-syndrome. Exploratory laparotomy or slaughter revealed a grossly distended abomasum which was filled with ingesta but not displaced. The omasum, reticulum and rumen of most of the cows were dilated secondarily and filled with ingesta. Six of the cows were treated by the administration of a solution of sodium chloride, glucose and potassium chloride intravenously, and metoclopramide intramuscularly. Five cows recovered within a short time, general condition, appetite and defecation were again normal and the abomasal and ruminal function returned within three days.

  20. 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.

  1. Desmoplastic infantile and non-infantile ganglioglioma. Review of the literature.

    PubMed

    Gelabert-Gonzalez, Miguel; Serramito-García, Ramón; Arcos-Algaba, Andrea

    2010-04-01

    Desmoplastic gangliogliomas (DIG) are rare primary neoplasms that comprise 0.5-1.0% of all intracranial tumors. Clinically, there are two forms of DIG, the infantile and the non-infantile. These tumors invariably arise in the supratentorial region and commonly involve more than one lobe, preferentially the temporal and frontal. On neuroimaging are seen as large hypodense cystic masses with a solid isodense or slightly hyperdense superficial portion. The histologic diagnosis is characterized by the presence of three different cell lines: astrocytic, neuronal, and primitive neuroectodermal marker sites, which were demonstrable. The treatment of choice is radical surgical excision, and if this is done, achieved complete healing of the patient does not require additional treatment. A literature review of DIG was compiled through Medline/Ovid using the keywords "desmoplastic infantile ganglioglioma", "desmoplastic non-infantile ganglioglioma" covering the years 1984-2009. We present a review of a total of 113 cases of infantile (94) and non-infantile gangliogliomas (19) published to date, examining the clinical, radiologic, surgical, and pathological aspects, as well as the outcome. Desmoplastic gangliogliomas represent a rare tumor group with two well-defined age groups, the children and non-children. Desmoplastic infantile gangliogliomas are the most common and occur in children below 5 years of age, and the large majority of them present within the first year of life. Surgery is the treatment of choice and no complementary treatment is needed in cases of complete tumor resection. PMID:21246390

  2. Analysis of hypertrophic and normal scar gene expression with cDNA microarrays.

    PubMed

    Tsou, R; Cole, J K; Nathens, A B; Isik, F F; Heimbach, D M; Engrav, L H; Gibran, N S

    2000-01-01

    Hypertrophic scar is one form of abnormal wound healing. Previous studies have suggested that hypertrophic scar formation results from altered gene expression of extracellular matrix molecules. A broadscale evaluation of gene expression in hypertrophic scars has not been reported. To better understand abnormalities in hypertrophic scar gene expression, we compared messenger RNA expression in hypertrophic scars, normal scars, and uninjured skin with the use of complementary (c)DNA microarrays. Total RNA was extracted from freshly excised human hypertrophic scars, normal scars, or uninjured skin and reverse transcribed into cDNA with the incorporation of [33P] deoxycytidine triphosphate. The resulting radioactive cDNA probes were hybridized onto cDNA microarrays of 4000 genes. Hybridization signals were normalized and analyzed. In the comparison of tissue samples, mean intensities were calculated for each gene within each group (hypertrophic scars, normal scars, and uninjured skin). Ratios of the mean intensities of hypertrophic scars to normal scars, hypertrophic scars to uninjured skin, and normal scars to uninjured skin were generated. A ratio that was greater than 1 indicated upregulation of any particular gene and a ratio that was less than 1 indicated downregulation of any particular gene. Our data indicated that 142 genes were overexpressed and 50 genes were underexpressed in normal scars compared with uninjured skin, 107 genes were overexpressed and 71 were underexpressed in hypertrophic scars compared with uninjured skin, and 44 genes were overexpressed and 124 were underexpressed in hypertrophic scars compared with normal scars. Our analysis of collagen, growth factor, and metalloproteinase gene expression confirmed that our molecular data were consistent with published biochemical and clinical observations of normal scars and hypertrophic scars. cDNA microarray analysis provides a powerful tool for the investigation of differential gene expression in

  3. 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

  4. 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

  5. Misdiagnosed infantile rhabdomyofibrosarcoma: A case report

    PubMed Central

    Pan, Tao; Chen, Ken; Jiang, Run-Song; Zhao, Zheng-Yan

    2016-01-01

    Infantile rhabdomyofibrosarcoma is a rare form of soft-tissue tumor often associated with difficulties in diagnosis. The disease is positioned intermediately between rhabdomyosarcoma and infantile fibrosarcoma in terms of clinical presentation, immunohistochemistry, behavior, morphology and ultrastructural features. Reports of rhabdomyofibrosarcoma cases are limited in the literature. The present case describes a 26-month-old female who presented with a slowly progressive, soft-tissue mass in the right chest wall. The mass was successfully treated with surgery. Using histopathology, the tumor was diagnosed and classified as infantile rhabdomyofibrosarcoma. The patient has been followed-up for 2 years and is currently in good condition. The present case demonstrates that early, radical, local surgery and multidisciplinary cooperation were successful for the treatment of rhabdomyofibrosarcoma, and close follow-up highly recommended.

  6. Effects of Noscarna™ on hypertrophic scarring in the rabbit ear model: histopathological aspects.

    PubMed

    Lee, Dong Won; Ku, Sae Kwang; Cho, Hyuk Jun; Kim, Jeong Hwan; Hiep, Tran Tuan; Han, Sang Duk; Kim, Bo Gyun; Kang, Min Kyung; Do, Eui Seon; Jun, Joon Ho; Jang, Sun Woo; Son, Mi-Won; Sohn, Young Taek; Choi, Han-Gon; Yong, Chul Soon; Kim, Jong Oh

    2012-11-01

    In this study, we evaluated the effects of silicone-based gel on the healing of hypertrophic scars in the rabbit ear model. After 4-week application of silicone-based gel containing allantoin, dexpanthenol and heparin (Noscarna™) to scars in a rabbit ear model of hypertrophic scarring, significant improvements in hypertrophic scar healing and a great loss of skin pigment were observed compared to the non-treated control, base or silicone control-treated scars. Furthermore, histological analysis of Noscarna™-treated scars revealed a significant reduction in scar elevation index (SEI), anterior skin and epithelial thicknesses, inflammatory cells, vessels, collagen disorganization and fibroblasts compared to all control hypertrophic scars. Furthermore, Noscarna™ showed more favorable effects on hypertrophic scars than a commercial product, Contractubex®. Therefore, these results clearly demonstrated that the newly developed silicone-based gel, Noscarna™, could be a promising formulation as an effective therapeutic agent for hypertrophic scars. PMID:23212642

  7. Idiopathic hypertrophic cranial pachymenigitis - A long follow-up needed.

    PubMed

    Hashmi, M A; Gautam, G; Sengupta, P; Singh, H; Haque, N

    2011-07-01

    Idiopathic hypertrophic cranial pachymenigitis is a rare clinical condition caused by localized or diffuse inflammatory thickening of dura matter. Described here is a person having diffuse thickening of dura matter of base of skull and he was on follow-up treatment for 5 years with us. Diagnosis was done by excluding other conditions and with biopsy. The patient responded to steroid and the MRI picture, which is given serially, shows improvement. PMID:22347338

  8. Mutations in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy.

    PubMed

    Uppal, Sandeep; Diggle, Christine P; Carr, Ian M; Fishwick, Colin W G; Ahmed, Mushtaq; Ibrahim, Gamal H; Helliwell, Philip S; Latos-Bieleńska, Anna; Phillips, Simon E V; Markham, Alexander F; Bennett, Christopher P; Bonthron, David T

    2008-06-01

    Digital clubbing, recognized by Hippocrates in the fifth century BC, is the outward hallmark of pulmonary hypertrophic osteoarthropathy, a clinical constellation that develops secondary to various acquired diseases, especially intrathoracic neoplasm. The pathogenesis of clubbing and hypertrophic osteoarthropathy has hitherto been poorly understood, but a clinically indistinguishable primary (idiopathic) form of hypertrophic osteoarthropathy (PHO) is recognized. This familial disorder can cause diagnostic confusion, as well as significant disability. By autozygosity methods, we mapped PHO to chromosome 4q33-q34 and identified mutations in HPGD, encoding 15-hydroxyprostaglandin dehydrogenase, the main enzyme of prostaglandin degradation. Homozygous individuals develop PHO secondary to chronically elevated prostaglandin E(2) levels. Heterozygous relatives also show milder biochemical and clinical manifestations. These findings not only suggest therapies for PHO, but also imply that clubbing secondary to other pathologies may be prostaglandin mediated. Testing for HPGD mutations and biochemical testing for HPGD deficiency in patients with unexplained clubbing might help to obviate extensive searches for occult pathology. PMID:18500342

  9. Familial hypertrophic cardiomyopathy: vectorcardiographic findings in echocardiographically unaffected relative.

    PubMed Central

    Loperfido, F; Fiorilli, R; Digaetano, A; Di Gennaro, M; Santarelli, P; Bellocci, F; Coppola, E; Zecchi, P

    1982-01-01

    The electrocardiographic and vectorcardiographic (Frank system) features of the first degree relatives of subjects with documented familial hypertrophic cardiomyopathy were analysed. A total of nine affected members and 29 relatives were examined in four families. THe subjects were considered to be affected when the septal to free posterior wall thickness ratio exceeded 1.3 at M-mode echocardiography. Four relatives had asymmetric septal hypertrophy. Among 25 relatives without evidence of asymmetric septal hypertrophy, two over 20 years and 10 under 20 years of age showed increased voltage of QRS anterior forces (Qz amplitude greater than 0.80 mV) on the orthogonal electrocardiogram. The vectorcardiographic data of the relatives under 20 years of age without evidence of asymmetric septal hypertrophy (18 subjects) were compared with those of 38 normal control subjects of comparable age range. The young relatives without disproportionate septal hypertrophy had significantly greater Qz amplitude and Q/Rz ratio than the normal control subjects. In contrast, the echocardiographic data were not significantly different. We suggest that the electrocardiographic finding of abnormal anterior forces in one or more first degree relatives of subjects with documented hypertrophic cardiomyopathy may constitute a valuable aid in ascertaining the genetic transmission of the disease and in recognising affected members without echocardiographic evidence of hypertrophic cardiomyopathy. Images PMID:7200794

  10. Helicobacter pylori and Egyptian infantile colic.

    PubMed

    Ali, Adel S A; Borei, Maher B M

    2013-08-01

    Excessive infant crying is a common and often stress-inducing condition for parents that can ultimately result in infant abuse. Although the infantile colic is reported commonly and causes appreciable distress for both parents and pediatricians, its pathogenesis remains unclear, despite 40 years of research. This work studied the role of H. pylori in infantile colic. This study was conducted in a primary health care office in Sharkia Governorate. The study included 50 infants with infantile colic according to Wessel's criteria, along with age and sex matched 50 healthy controls. All-infants without apparent cause for their colic underwent full history taking, clinical examination and H. pylori antigen in their stools. This study supports the new evidence for the role of H. pylori in the pathogenesis of infantile colic. H. pylori stool antigen was present in 31 (62%) of cases in contrast to 10 (20%) of controls (P<0.0001). Normal vaginal delivery, male, vomiting and breast feeding may be risk factors for H. pylori infection in this age period.

  11. 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…

  12. 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.

  13. Upper tract juvenile polyps in juvenile polyposis patients: dysplasia and malignancy are associated with foveolar, intestinal, and pyloric differentiation.

    PubMed

    Ma, Changqing; Giardiello, Francis M; Montgomery, Elizabeth A

    2014-12-01

    Patients with juvenile polyposis syndrome (JPS), a hereditary autosomal dominant hamartomatous polyposis syndrome, are at increased risk for colorectal adenocarcinoma. The upper gastrointestinal tract is less often involved by JPS than the colorectum, and, consequently, upper tract juvenile polyps (JPs) are not well studied. We reviewed upper endoscopies and corresponding biopsies in JPS patients documented in our Polyposis Registry. A total of 199 upper gastrointestinal biopsies from 69 endoscopies were available in 22 of 41 (54%) JPS patients. Thirteen of the 22 patients (59%) had ≥1 gastric JP; 5 also had 6 small bowel JPs. Gastric JP was identified as early as age 7 in a patient with an SMAD4 gene mutation. Two patients (9%) had high-grade dysplasia in gastric JP. Invasive adenocarcinoma was diagnosed in the gastrectomy specimen of 1 patient. Five patients had a huge gastric polyp burden; 3 underwent total gastrectomy. Three patients died of complications associated with extensive upper JP. Histologically, 8 of the 56 (14%) gastric JPs identified had dysplasia. All of the 8 polyps demonstrated intestinalized and pyloric gland differentiation intermixed with foveolar epithelium. Dysplasia was seen arising in all 3 types of epithelium. The flat gastric mucosa in 11 patients was unremarkable without inflammation or intestinal metaplasia. The 6 small bowel JPs had no dysplasia. Our findings suggest that JPS patients are at increased risk for gastric adenocarcinoma. Detection of malignancy in syndromic gastric JP indicates that the current screening procedures are insufficient in removal of precursor lesions to prevent progression to carcinoma. PMID:25390638

  14. The Outcome of Infantile Onset Pompe Disease in South of Iran

    PubMed Central

    Moravej, Hossein; Karamizadeh, Zohre; Paran, Maryam

    2016-01-01

    Background: Infantile Onset Pompe Disease (IOPD) is a rare autosomal recessive neuromuscular disorder. It is associated with cardiomegaly, hypotonia, paresis, and death in the first year of life. Since 2006, following the use of Alglucosidase alfa as Enzyme Replacement Therapy (ERT), the patients’ survival is improved to a noticeable extent. Objectives: The purpose of this study is to examine the outcome of IOPD patients in South of Iran and the degree of responsiveness to ERT. Patients and Methods: All patients who were diagnosed with IOPD on the bases of clinical symptoms, and enzyme assay on dried blood spot, were included in the study; and were followed up regarding cardiac function, locomotor activity, and cognition. Results: Six patients with IOPD were identified. All these six patients suffered from Hypertrophic Cardiomyopathy (HCM). Four (67%) of them also had generalized hypotonia. Three patients expired during the first weeks due to severe respiratory infection. One of them also got involved with Acute Cardiopulmonary Failure while receiving the fifth dose of ERT; and expired. However, the remaining two patients had a significant improvement after the maximum of 117 weeks of following up both cardiac and locomotor findings. These two patients were the same patients who showed cardiac symptoms from the beginning but did not have generalized hypotonia. Conclusions: Although ERT has a significant effect on enhancing the survival of IOPD patients, it should be associated with meticulous heart-respiratory cares during the first months of treatment and preventing infection especially nosocomial infections. PMID:26848380

  15. Association between infantile spasms and nonaccidental head injury.

    PubMed

    Birca, Ala; D'Anjou, Guy; Carmant, Lionel

    2014-05-01

    Infantile spasms constitute a severe epileptic encephalopathy of infancy with poor long-term developmental outcome. Many diverse etiologies have been associated with infantile spasms, but the pathophysiological process is still not fully understood. We describe 2 cases of previously healthy 1- and 3-month-old infants who suffered a nonaccidental head injury with extensive cerebral lesions. Both presented with acute focal seizures rapidly controlled with phenobarbital. Nevertheless, they developed infantile spasms after a latency period of 3-4 months. Spasms were rapidly controlled with vigabatrin. Both children manifested with developmental delay, either exacerbated (case 1) or elicited (case 2) by infantile spasms. Our report highlights nonaccidental head injury as a risk factor for developing infantile spasms following a seizure-free latency period. A better understanding of the pathophysiology linking accidental brain trauma with infantile spasms could lead to more effective neuroprotective strategies. In the meantime, increased awareness and follow-up are warranted. PMID:23580697

  16. The Glands of the Stomach in Relation to Pernicious Anæmia; with Special Reference to the Glands in the Pyloric Region

    PubMed Central

    Meulengracht, E.

    1935-01-01

    The researches have had in view the anatomical localization of the anti-anæmic factor (Castle's “intrinsic factor”) in the stomach. As the pig's stomach is peculiarly constructed, having a so-called cardiac-gland region, a fundus-gland region and a pyloric gland region continued in the glands of Brunner in the duodenum, preparations have been made from each of these regions, and tests of the effectiveness of each of these separate portions have been made in cases of pernicious anæmia. It has previously been pointed out (Meulengracht and Schiødt) that the production of hydrochloric acid, pepsin and rennin was confined to the glands of the fundus region (peptic glands) with their oxyntic cells and chief cells. The experiments showed that the extract of the fundus-gland portion was inactive in cases of pernicious anæmia, that of the so-called cardiac-gland portion was mildly active, that of the pyloric-gland portion was strongly active, and that of the duodenal portion was also strongly active. The feebler activity of the cardiac portion might be shown to be a result of the smaller number of glands to the unit area in that region. The conclusion drawn from the experiments is that the so-called cardiac glands, the pyloric glands and the Brunner glands in the duodenum, which anatomically may be said to be very nearly identical, may also be taken to be functionally identical, at any rate with regard to the production of the anti-anæmic factor. This collective gland region, which it is proposed to call the pyloric-gland region, is the site of the production of the anti-anæmic factor. There is thus attributed to these glands a definite, well-defined and vitally important function. It is further concluded from the experiments that pernicious anæmia in human beings is due to atrophy and inactivity of that part of the stomach which comprises the pyloric-gland region. The experiments may thus be said to have anatomically localized pernicious anæmia in human beings

  17. The Influence of Gastric Antral Ulcerations on the Expression of Galanin and GalR1, GalR2, GalR3 Receptors in the Pylorus with Regard to Gastric Intrinsic Innervation of the Pyloric Sphincter

    PubMed Central

    Zalecki, Michal; Sienkiewicz, Waldemar; Franke-Radowiecka, Amelia; Klimczuk, Magdalena; Kaleczyc, Jerzy

    2016-01-01

    Gastric antrum ulcerations are common disorders occurring in humans and animals. Such localization of ulcers disturbs the gastric emptying process, which is precisely controlled by the pylorus. Galanin (Gal) and its receptors are commonly accepted to participate in the regulation of inflammatory processes and neuronal plasticity. Their role in the regulation of gastrointestinal motility is also widely described. However, there is lack of data considering antral ulcerations in relation to changes in the expression of Gal and GalR1, GalR2, GalR3 receptors in the pyloric wall tissue and galaninergic intramural innervation of the pylorus. Two groups of pigs were used in the study: healthy gilts and gilts with experimentally induced antral ulcers. By double immunocytochemistry percentages of myenteric and submucosal neurons expressing Gal-immunoreactivity were determined in the pyloric wall tissue and in the population of gastric descending neurons supplying the pyloric sphincter (labelled by retrograde Fast Blue neuronal tracer). The percentage of Gal-immunoreactive neurons increased only in the myenteric plexus of the pyloric wall (from 16.14±2.06% in control to 25.5±2.07% in experimental animals), while no significant differences in other neuronal populations were observed between animals of both groups. Real-Time PCR revealed the increased expression of mRNA encoding Gal and GalR1 receptor in the pyloric wall tissue of the experimental animals, while the expression(s) of GalR2 and GalR3 were not significantly changed. The results obtained suggest the involvement of Gal, GalR1 and galaninergic pyloric myenteric neurons in the response of pyloric wall structures to antral ulcerations. PMID:27175780

  18. 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

  19. Unusual presentation of GLUT-1 positive infantile haemangioma.

    PubMed

    Koh, Clare; Sugo, Ella; Wargon, Orli

    2009-05-01

    Infantile haemangiomas are usually not present at birth. This is a case of a female infant with an atypical congenital vascular tumour present at birth which ulcerated in the first few days of life, involuted over several months and showed histopathological features in keeping with either an involuting GLUT-1 positive infantile haemangioma or a reticular haemangioma of infancy. The initial clinical presentation was atypical for an infantile haemangiomas and for a congenital haemangioma, however the histopathology and immunohistochemistry assisted with confirmation of the diagnosis. Vacuum-assisted closure (VAC) therapy aided in the complete healing of the ulcerated infantile haemangioma which was not achievable with conventional dressings.

  20. 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

  1. [A clinical study of hypertrophic obstructive cardiomyopathy in the elderly].

    PubMed

    Chida, K; Ohkawa, S; Maeda, S; Kuboki, K; Imai, T; Sakai, M; Watanabe, C; Matsushita, S; Ueda, K; Kuramoto, K

    1990-09-01

    Seven elderly patients with hypertrophic obstructive cardiomyopathy (HOCM), who had the three following characteristics on echocardiograms 1) extremely thickened septum, 2) systolic anterior motion of the mitral valve, 3) mid systolic semi-closure of the aortic valve, were clinically evaluated. Ages ranged from 73 to 86 years old (average 78.9% yr.) and all were women. None had not a family history of hypertrophic cardiomyopathy but they had mild hypertension. Six patients showed a significant high voltage on the ST-segment and T-wave abnormalities ("strain" pattern). The left ventricular posterior wall as well as the septum was thickened in 5 and the remaining 2 showed asymmetrical septal hypertrophy (ASH) on echocardiograms. The left ventricular cavity was narrowed due to left ventricular hypertrophy and the shape of the left ventricular cavity was ovoid in all patients. The aorto-septal angles in these 7 patients were 80 degrees to 120 degrees. In addition, proximal septal bulge in all and anterior displacement of the mitral posterior leaflet due to the mitral ring calcification (MRC) in some patients contributed to the narrowing of the left ventricular outflow tract, and the mitral valve was pulled up toward the septum because of the good left ventricular systolic function (ejection fraction: 70 to 94% by echocardiography) and blood was ejected at a high velocity through a narrowed outflow tract (Venturi effect). Pressure gradients in the left ventricular outflow tract was 38 to 146 mmHg in 5 examined by cardiac catheterization. Biopsy specimens were obtained from 2 patients, showing hypertrophic myocytes (diameter: 20 to 30 micron) in 2 and mild disarray in 1.(ABSTRACT TRUNCATED AT 250 WORDS)

  2. A Novel Triple Medicine Combination Injection for the Resolution of Keloids and Hypertrophic Scars

    PubMed Central

    Gold, Michael H.

    2014-01-01

    Keloids and hypertrophic scars remain one of the more difficult treatment concerns for clinicians. A variety of therapies have been used in the past with moderate success. On occasion, combination therapy has been used to treat these lesion, in an attempt to lessen the symptoms of pain and pruritus that often accompanies keloids and hypertrophic scars, as well as treating the actual lesions themselves. A novel triple combination injection process is introduced here in an attempt to further reduce the signs and symptoms of these lesions. The combination includes 5-fluoruracil, triamcinolone acetonide, and hyaluronidase. All three work in concert to treat keloids and hypertrophic scars, and this is the first work at looking at these medicines given together, at the same time, in a series of recalcitrant keloids and hypertrophic scars. The positive results warrant further investigation and hope for those with keloids and hypertrophic scars. PMID:25489380

  3. 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.

  4. Recurrent hypertrophic peroneal tubercle associated with peroneus brevis tendon tear.

    PubMed

    Ochoa, Leah M; Banerjee, Rahul

    2007-01-01

    Stenosing peroneal tenosynovitis resulting from hypertrophy of the peroneal tubercle has been well described. Successful surgical treatment addresses the hypertrophied peroneal tubercle as well as any intrinsic tendon pathology. We report a case of recurrent foot pain caused by stenosing peroneal tenosynovitis in a 16-year-old woman. Four months after excision of a hypertrophic peroneal tubercle, the patient developed a recurrence of symptoms. Imaging studies, repeat operative exploration, and pathologic specimen demonstrated a recurrence of the peroneal tubercle hypertrophy associated with a longitudinal tear of the peroneus brevis tendon. Re-resection of the hypertrophied tubercle and peroneal tendon repair resulted in a resolution of symptoms. PMID:17761327

  5. Spiral hypertrophic cardiomyopathy as detected by cardiac magnetic resonance.

    PubMed

    Amin, Nessim; Williams, Ronald B; Yarmozik, June A; Biederman, Robert W W

    2014-03-01

    Hypertrophic cardiomyopathy (HCM) is a genetically determined heart muscle disease; characterized by left ventricular hypertrophy (LVH). Spiral HCM is described as having a counterclockwise rotation pattern of hypertrophy along with variable degrees of fibrosis. A 34-year-old female presented with symptoms suggestive of heart failure. Echocardiography showed concentric LVH with normal contractility. Cardiac MRI showed asymmetric septal hypertrophy with mid-cavity obliteration and a spiral pattern of variably increasing wall thickness. Late gadolinium enhancement (LGE) demonstrated several areas of abnormal postgadolinium uptake. We report a case of spiral HCM. We should consider cardiovascular magnetic resonance (CMR) as the reference standard for diagnosing HCM. PMID:24749165

  6. 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.

  7. Infantile systemic hyalinosis in identical twins.

    PubMed

    Koonuru, Mahesh Kumar; Venugopal, Satya Prasad

    2015-11-01

    Infantile systemic hyalinosis (ISH) is a rare disorder belonging to the heterogeneous group of genetic fibromatoses. It is a rare, progressive, fatal autosomal recessive condition characterized by widespread deposition of hyaline material in many tissues caused by mutations in the anthrax toxin receptor 2 gene - ANTXR2. It presents hyperpigmented skin over bony prominences. Characteristic purplish patches develop over the medial and lateral malleoli of the ankles, the metacarpophalangeal joints, spine and elbows, with progressive joint contractures, osteopenia, skin abnormalities and chronic severe pain. The present case reports the occurrence of infantile systemic hyalinosis in twin brothers five months of age who had come for early intervention for joint contractures representing characteristic brownish patches over bony prominences. ISH cases reported until this date have been less than 20 and the present case is unique in nature since this is the first time ISH is reported in twins globally and the symptoms have been identified at an early age. PMID:26668783

  8. [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.

  9. [Early infantile autism and its biochemistry].

    PubMed

    Ferrari, P; Bursztejn, C

    1983-09-22

    In the first part of this paper the different orientations of biochemical research in early infantile autism are recalled. The most significant results of these studies concerning the dopaminergic, noradrenergic and indolaminergic (serotonin, efflux, uptake) systems as well as the various enzymatic complexes are also reviewed. In the second part, the methodologic problems which arise in biochemical research in the field of autism are addressed.

  10. Infantile refsum disease in four Amish sibs.

    PubMed

    Bader, P I; Dougherty, S; Cangany, N; Raymond, G; Jackson, C E

    2000-01-17

    Infantile Refsum disease (IRD) appears with varying degrees of impaired vision, hearing loss, developmental delays, and neuromotor deficiencies. We report on four Amish sibs with IRD from a consanguineous marriage; biochemical testing supported the diagnosis of IRD. Of particular interest in this sibship are characteristic poorly formed yellow-orange teeth in at least three of the four affected sibs and behavior problems in the affected females. PMID:10607947

  11. Infantile refsum disease in four Amish sibs.

    PubMed

    Bader, P I; Dougherty, S; Cangany, N; Raymond, G; Jackson, C E

    2000-01-17

    Infantile Refsum disease (IRD) appears with varying degrees of impaired vision, hearing loss, developmental delays, and neuromotor deficiencies. We report on four Amish sibs with IRD from a consanguineous marriage; biochemical testing supported the diagnosis of IRD. Of particular interest in this sibship are characteristic poorly formed yellow-orange teeth in at least three of the four affected sibs and behavior problems in the affected females.

  12. Infantile Refsum disease: serial evaluation with MRI.

    PubMed

    Cakirer, Sinan; Savas, Mahmut R

    2005-02-01

    Refsum disease is a rare metabolic disorder, which is characterized by the accumulation of phytanic acid in the blood and tissues, including the brain. A variant of this condition that occurs in young children is called infantile Refsum disease. The MRI findings of symmetrical signal change involving the corticospinal tracts, cerebellar dentate nuclei, and corpus callosum are characteristic. We report the serial MRI findings of a child with this rare metabolic disorder.

  13. Infantile tremor syndrome -- down but not out.

    PubMed

    Goraya, Jatinder S; Kaur, Sukhjot

    2015-03-01

    Retrospective chart review of 21 infants with infantile tremor syndrome for vitamin B12 deficiency showed low serum vitamin B12 levels in 8/16 (50%). Of the eight infants with normal levels, six had received vitamin B12 before referral. Macrocytosis and low maternal serum B12 was found in 12 and seven cases each. Treatment with vitamin B12 alone produced rapid recovery.

  14. Infantile and acquired nystagmus in childhood.

    PubMed

    Ehrt, Oliver

    2012-11-01

    Nystagmus is an involuntary, periodic eye movement caused by a slow drift of fixation which is followed by a fast refixation saccade (jerk nystagmus) or a slow movement back to fixation (pendular nystagmus). In childhood most cases are benign forms of nystagmus: idiopathic infantile, ocular or latent nystagmus. They arise at the age of 3 months, without oscillopsia and show the absence of the physiologic opto-kinetic nystagmus. A full ophthalmologic evaluation is all that is needed in most cases: albinism, macular or optic nerve hypoplasia and congenital retinal dystrophies are the most common forms of ocular nystagmus. Idiopathic infantile nystagmus can be hereditary, the most common and best analyzed form being a mutation of the FRMD7 gene on chromosome Xq26.2. The mutation shows a mild genotype-phenotype correlation. In all female carriers the opto-kinetic nystagmus is absent and half had mild nystagmus. Latent nystagmus is part of the infantile esotropia syndrome and shows the unique feature of change of direction when the fixing eye changes: it is always beating to the side of the fixing eye. There is no cure for infantile nystagmus but therapeutic options include magnifying visual aids or eye muscle surgery at the age of 6-8 y in patients with head turn. Less than 20% of childhood nystagmus are acquired and need further neurological and imaging work-up. Alarming signs and symptoms are: onset after the age of 4 months, oscillopsia, dissociated (asymmetric) nystagmus, preserved opto-kinetic nystagmus, afferent pupillary defect, papilloedema and neurological symptoms like vertigo and nausea. The most common cause is due to pathology of the anterior optic pathway (e.g. optic nerve gliomas). It shows the same clinical feature of dissociated nystagmus as spasmus nutans but has a higher frequency as in INO. Other forms of acquired nystagmus are due to brainstem, cerebellar or metabolic diseases. PMID:22459007

  15. Infantile torticollis: a review of 624 cases.

    PubMed

    Cheng, J C; Au, A W

    1994-01-01

    We reviewed 624 cases of infantile torticollis in one centre over a period of 7 years. The incidence of torticollis was found to be 1.3% in Chinese children. Boy-to-girl ratio was 3:2. Obstetric histories of the mothers showed a total of 62.2% with difficult labour, breech deliveries, or caesarean section, and 6.04% had associated congenital anomalies. Of all the cases, 27.88% were found to be postural, 35.4% had torticollis that presented with sternomastoid tumor, and 36.7% presented with muscular torticollis alone. When limitation of neck range was considered, 36.7% had a passive rotation deficit > 15 degrees. In patients presenting in the early stages, 97% of all infantile torticollis cases resolved with conservative treatment, active stimulation, and a passive stretching program. For those responding to treatment, the mean treatment period was < 6 months for varying degrees of neck rotational deficit. Patients with cord-like muscular torticollis and a rotational > 30 degrees were more likely to need surgery. Presence of sternomastoid tumor alone was not found to increase the likelihood of surgery. Musculoskeletal sequelae after torticollis had resolved included intermittent head tilt and persistence of mild craniofacial asymmetry. We recommend continuous follow-up in cases of infantile torticollis, particularly in patients with progression of sternomastoid tumor to muscular torticollis.

  16. 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

  17. Family communication in a population at risk for hypertrophic cardiomyopathy.

    PubMed

    Batte, Brittany; Sheldon, Jane P; Arscott, Patricia; Huismann, Darcy J; Salberg, Lisa; Day, Sharlene M; Yashar, Beverly M

    2015-04-01

    Encouraging family communication is an integral component of genetic counseling; therefore, we sought to identify factors impacting communication to family members at risk for Hypertrophic Cardiomyopathy (HCM). Participants (N = 383) completed an online survey assessing: 1) demographics (gender, genetic test results, HCM family history, and disease severity); 2) illness representations; 3) family functioning and cohesiveness; 4) coping styles; 5) comprehension of HCM autosomal dominant inheritance; and 6) communication of HCM risk information to at-risk relatives. Participants were a national sample of individuals with HCM, recruited through the Hypertrophic Cardiomyopathy Association. Data from 183 participants were analyzed using a logistic regression analysis, with family communication as a dichotomous dependent variable. We found that female gender and higher comprehension of autosomal dominant inheritance were significant predictors of participants' communication of HCM risk information to all their siblings and children. Our results suggest that utilizing interventions that promote patient comprehension (e.g., a teaching-focused model of genetic counseling) are important and may positively impact family communication within families with HCM.

  18. 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.

  19. [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.

  20. 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…

  1. [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. PMID:25665327

  2. Extending Childhood into the Teen Years: "Infantilization" and Its Consequences

    ERIC Educational Resources Information Center

    Skager, Rodney

    2009-01-01

    Young people sandwiched between childhood and adulthood often rebel when adults treat them like children rather than with the respect that acknowledges their intelligence and potential. Research and theory supporting the view of "infantilizing" adolescents has proliferated. The extent to which modern cultures infantilize youth is evident in…

  3. 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)

  4. 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.

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

    PubMed Central

    Mahadevaiah, Guruprasad; Gupta, Manoj

    2015-01-01

    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. PMID:26504441

  6. 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

  7. Probiotics for infantile colic: a systematic review

    PubMed Central

    2013-01-01

    Background Infantile colic is a common paediatric condition which causes significant parental distress. Increased intestinal coliform colonization in addition to alteration in Lactobacillus abundance and distribution may play an important role in its pathogenesis. The objectives of this systematic review are to evaluate the efficacy of probiotic supplementation in the reduction of crying time and successful treatment of infantile colic. Methods Literature searches were conducted of MEDLINE, EMBASE and the Cochrane Central Register of Controlled Trials. Only randomized controlled trials enrolling term, healthy infants with colic were included. A meta-analysis of included trials was performed utilizing the Cochrane Collaboration methodology. Results Three trials that enrolled 220 breastfed infants met inclusion criteria, of which 209 infants were available for analysis. Two of the studies were assessed as good quality. Lactobacillus reuteri (strains-American Type Culture Collection Strain 55730 and DSM 17 938) was the only species utilized in the therapeutic intervention. Two of the trials were industry funded. Probiotic supplementation compared to simethicone or placebo significantly and progressively shortened crying times to 7 days reaching a plateau at three weeks post initiation of therapy [mean difference −56.03 minutes; 95% CI (−59.92, -52.15)]. Similarly, probiotics compared to placebo significantly increased the treatment success of infantile colic with a relative risk (RR) of 0.06; 95% CI (0.01, 0.25) and a number needed to treat of 2. Conclusions Although L. reuteri may be effective as a treatment strategy for crying in exclusively breastfed infants with colic, the evidence supporting probiotic use for the treatment of infant colic or crying in formula-fed infants remains unresolved. Results from larger rigorously designed studies will help draw more definitive conclusions. PMID:24238101

  8. Looking for new treatments of Infantile Colic

    PubMed Central

    2014-01-01

    Infantile colic is a common disturbance occurring in the first three months of life. It is a benign condition and one of the main causes of pediatric consultation in the early part of life because of its great impact on family life. Some pediatricians are prone to undervalue this issue mainly because of the lack of evidence based medicine guidelines. Up to now, there is no consensus concerning management and treatment. Literature reports growing evidence about the effectiveness of dietary, pharmacological, complementary and behavioral therapies as options for the management of infantile colic. Dietary approach, usually based on the avoidance of cow’s milk proteins in breast-feeding mothers and bottle-fed infants, more recently has seen the rise of new special formulas, such as partially hydrolyzed proteins and low lactose added with prebiotics or probiotics: their efficacy needs to be further documented. Investigated pharmacological agents are Simethicone and Cimetropium Bromide: the first is able to reduce bloating while the second could reduce fussing crying, but it has been tested only for severe infantile colic. No other pain relieving agents have been proposed until now, but some clinical trials are ongoing for new drugs. There is limited evidence supporting the use of complementary and alternative treatments (herbal supplements, manipulative approach and acupuncture) or behavioral interventions. Recent studies have focused the role of microbiota in the pathogenesis of this disturb and so new treatments, such as probiotics, have been proposed, but only few strains have been tested. Further investigations are needed in order to provide evidence-based guidelines. PMID:24898541

  9. Keloids and Hypertrophic Scars: A Spectrum of Clinical Challenges.

    PubMed

    Trace, Anthony P; Enos, Clinton W; Mantel, Alon; Harvey, Valerie M

    2016-06-01

    Since their earliest description, keloids and hypertrophic scars have beleaguered patients and clinicians alike. These scars can be aesthetically disfiguring, functionally debilitating, emotionally distressing, and psychologically damaging, culminating in a significant burden for patients. Our current understanding of keloid pathophysiology has grown and continues to advance while molecular biology, genetics, and technology provide ever-deepening insight into the nature of wound healing and the pathologic perturbations thereof. Greater understanding will lead to the development and application of refined therapeutic modalities. This article provides an overview of our current understanding of keloids, highlighting clinical characteristics and diagnostic criteria while providing a comprehensive summary of the many therapeutic modalities available. The proposed mechanism, application, adverse events, and reported efficacy of each modality is evaluated, and current recommendations are summarized. PMID:26894654

  10. Hypertrophic osteoarthropathy in patient with Crohn's disease: a case report.

    PubMed

    Rhee, Sung-Min; Park, Ki Jeong; Ha, Yong-Chan

    2014-05-01

    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

  11. Hypertrophic cardiomyopathy with Jeune syndrome: The first reported case.

    PubMed

    Güvenç, Osman; Sündüs Uygun, Saime; Çimen, Derya; Aslan, Eyüp; Annagür, Ali

    2016-09-01

    Jeune syndrome (Asphyxiating thoracic dysplasia) is a rare dystrophy of the skeleton, inherited as an autosomal recessive condition. Patients develop a narrowed thorax, rhizomelic dwarfism, and hepatic, renal, and pancreatic abnormalities. High rates of pulmonary hypoplasia and pulmonary hypertension have been reported. Some patients die in early stages of life due to respiratory failure. The case of a patient referred with a history of severe asphyxiating birth, who had been diagnosed with Jeune syndrome and later hypertrophic cardiomyopathy (HCM) upon echocardiographic examination is described in the present report. This rare disease is discussed with respect to the current literature, as the present is the first reported case to be accompanied by HCM. PMID:27665332

  12. Clinical utility of natriuretic peptides and troponins in hypertrophic cardiomyopathy.

    PubMed

    Kehl, Devin W; Buttan, Anshu; Siegel, Robert J; Rader, Florian

    2016-09-01

    The diagnosis of hypertrophic cardiomyopathy (HCM) is based on clinical, echocardiographic and in some cases genetic findings. However, prognostication remains limited except in the subset of patients with high-risk indicators for sudden cardiac death. Additional methods are needed for risk stratification and to guide clinical management in HCM. We reviewed the available data regarding natriuretic peptides and troponins in HCM. Plasma levels of natriuretic peptides, and to a lesser extent serum levels of troponins, correlate with established disease markers, including left ventricular thickness, symptom status, and left ventricular hemodynamics by Doppler measurements. As a reflection of left ventricular filling pressure, natriuretic peptides may provide an objective measure of the efficacy of a specific therapy. Both natriuretic peptides and troponins predict clinical risk in HCM independently of established risk factors, and their prognostic power is additive. Routine measurement of biomarker levels therefore may be useful in the clinical evaluation and management of patients with HCM.

  13. Hypertrophic osteoarthropathy manifested with isolated calcaneal periostitis in bone scintigraphy.

    PubMed

    Moralidis, Efstratios; Gerasimou, Georgios; Theodoridou, Athina; Hilidis, Ilias; Mylonaki, Efrosyni; Gotzamani-Psarrakou, Anna

    2010-05-01

    Hypertrophic osteoarthropathy (HOA) is an incompletely understood syndrome characterized by digital clubbing and periosteal proliferation of long bones and it is commonly associated with primary lung tumors. Bone scintigraphy is a sensitive method in detecting HOA and characteristic findings have been reported. We present the case of a man with newly diagnosed non-small cell lung cancer, unremarkable clinical examination and blood tests and no digital clubbing. During disease staging, however, bone scintigraphy showed intense calcaneal cortical proliferation bilaterally without involvement of other parts of the skeleton. Cortical reaction of both calcanei resolved significantly after chemotherapy. This case indicates that HOA may manifest with isolated calcaneal periostitis bilaterally, which is a new addition to the literature.

  14. 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. PMID:26312722

  15. 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. PMID:25180104

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

    PubMed

    Wilson, Mathew G; Chandra, Navin; Papadakis, Michael; O'Hanlon, Rory; Prasad, Sanjay K; Sharma, Sanjay

    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.

  17. Audiological findings in Infantile Refsum disease.

    PubMed

    Vandana, V P; Bindu, Parayil Sankaran; Nagappa, Madhu; Sinha, Sanjib; Taly, Arun B

    2015-08-01

    Audiological manifestations in a four-year-old child with Infantile Refsum disease are reported. He was born to non-consanguineous parents and had normal birth history and mildly delayed milestones prior to presentation. Clinical features were characterized by neuroregression, retinitis pigmentosa, hearing loss, peripheral neuropathy and white matter signal changes on magnetic resonance imaging. Biochemical evaluation showed elevated serum levels of long chain fatty acid and phytanic acid confirming the diagnosis. The audiological profile was characterized by absent auditory brainstem responses with robust otocoustic emissions, which indicated auditory neuropathy as the possible cause of hearing loss.

  18. Idiopathic Hypertrophic Spinal Pachymeningitis with an Osteolytic Lesion

    PubMed Central

    Jee, Tae Keun; Lee, Sun-Ho; Kim, Eun-Sang

    2014-01-01

    Idiopathic hypertrophic spinal pachymeningitis (IHSP) is a chronic, progressive, inflammatory disorder characterized by marked fibrosis of the spinal dura mater with unknown etiology. According to the location of the lesion, it might induce neurologic deficits by compression of spinal cord and nerve root. A 58-year old female with a 3-year history of progressive weakness in both lower extremities was referred to our institute. Spinal computed tomography (CT) scan showed an osteolytic lesion involving base of the C6 spinous process with adjacent epidural mass. Magnetic resonance imaging (MRI) revealed an epidural mass involving dorsal aspect of cervical spinal canal from C5 to C7 level, with low signal intensity on T1 and T2 weighted images and non-enhancement on T1 weighted-enhanced images. We decided to undertake surgical exploration. At the operation field, there was yellow colored, thickened fibrous tissue over the dura mater. The lesion was removed totally, and decompression of spinal cord was achieved. Symptoms improved partially after the operation. Histopathologically, fibrotic pachymeninges with scanty inflammatory cells was revealed, which was compatible with diagnosis of idiopathic hypertrophic pachymeningitis. Six months after operation, motor power grade of both lower extremities was normal on physical examination. However, the patient still complained of mild weakness in the right lower extremity. Although the nature of IHSP is generally indolent, decompressive surgery should be considered for the patient with definite or progressive neurologic symptoms in order to prevent further deterioration. In addition, IHSP can present as an osteolytic lesion. Differential diagnosis with neoplastic disease, including giant cell tumor, is important. PMID:25328657

  19. Idiopathic hypertrophic spinal pachymeningitis with an osteolytic lesion.

    PubMed

    Jee, Tae Keun; Lee, Sun-Ho; Kim, Eun-Sang; Eoh, Whan

    2014-08-01

    Idiopathic hypertrophic spinal pachymeningitis (IHSP) is a chronic, progressive, inflammatory disorder characterized by marked fibrosis of the spinal dura mater with unknown etiology. According to the location of the lesion, it might induce neurologic deficits by compression of spinal cord and nerve root. A 58-year old female with a 3-year history of progressive weakness in both lower extremities was referred to our institute. Spinal computed tomography (CT) scan showed an osteolytic lesion involving base of the C6 spinous process with adjacent epidural mass. Magnetic resonance imaging (MRI) revealed an epidural mass involving dorsal aspect of cervical spinal canal from C5 to C7 level, with low signal intensity on T1 and T2 weighted images and non-enhancement on T1 weighted-enhanced images. We decided to undertake surgical exploration. At the operation field, there was yellow colored, thickened fibrous tissue over the dura mater. The lesion was removed totally, and decompression of spinal cord was achieved. Symptoms improved partially after the operation. Histopathologically, fibrotic pachymeninges with scanty inflammatory cells was revealed, which was compatible with diagnosis of idiopathic hypertrophic pachymeningitis. Six months after operation, motor power grade of both lower extremities was normal on physical examination. However, the patient still complained of mild weakness in the right lower extremity. Although the nature of IHSP is generally indolent, decompressive surgery should be considered for the patient with definite or progressive neurologic symptoms in order to prevent further deterioration. In addition, IHSP can present as an osteolytic lesion. Differential diagnosis with neoplastic disease, including giant cell tumor, is important. PMID:25328657

  20. 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.

  1. Coexistence of familial hypertrophic cardiomyopathy and vasospastic angina pectoris in two brothers.

    PubMed

    Suzuki, Nobuaki; Seto, Shinji; Koide, Yuji; Sato, Osami; Hirano, Hisataka; Kawano, Hiroaki; Yano, Katsusuke

    2003-09-01

    Two brothers had familial hypertrophic cardiomyopathy and vasospastic angina pectoris concurrently. Their family history showed that one of their sisters had hypertrophic cardiomyopathy and another brother died suddenly at age 52. The clinical diagnosis of hypertrophic cardiomyopathy was confirmed by an echocardiogram and left ventriculography. They had typical chest pain at rest, and a significant vasospasm of coronary arteries with chest pain and obvious ST-T changes in the electrocardiograms was provoked by intracoronary injection of acetylcholine in both patients. The administration of a calcium antagonist and nitrate was effective for ameliorating chest pain with no cardiovascular events during the follow up period of more than 3 years. Although underlying pathophysiologic abnormalities of familial hypertrophic cardiomyopathy and vasospastic angina pectoris are considered to be transmitted genetically, the genetic backgrounds of these cases remain to be clarified.

  2. Primary hypertrophic osteoarthropathy caused by homozygous deletion in HPGD gene in a family: changing clinical and radiological findings with long-term follow-up.

    PubMed

    Tüysüz, Beyhan; Yılmaz, Saliha; Kasapçopur, Özgür; Erener-Ercan, Tuğba; Ceyhun, Emre; Bilguvar, Kaya; Günel, Murat

    2014-11-01

    Autosomal recessive primary hypertrophic osteoarthropathy1 (PHOAR1) is characterized by delayed closure of the fontanels, digital clubbing, arthropathy and periostosis. Homozygous mutations in hydroxyprostaglandin dehydrogenase (HPGD) gene are the underlying pathology of PHOAR1. The aim of this study was to analyze the HPGD gene and the changing clinical and radiological findings with advancing age of two siblings with the diagnosis of PHOAR1. A novel 2-bp homozygous deletion was found in exon 3 (c.310-311delCT) of HPGD gene in the patients. Clinical and radiological findings of the siblings were evaluated between 4 months and 8 years and 6 months of age. The painful swelling and sweating of the hands and feet, cranial ossification defect and expanded diaphyses were evident at infantile period and gradually showed improvement until 4 years of age. After the age of 4 years, digital clubbing and swelling of knees persisted, palmoplantar hyperkeratosis developed and acro-osteolysis became evident on hand radiographs. In conclusion, we suggest that the clinical findings of the patients with PHOAR1 should be classified in two periods as early and late childhood. We also observed that there was intrafamilial variability of clinical findings. PMID:24816859

  3. Association of juvenile and adenomatous polyposis with pulmonary arteriovenous malformation and hypertrophic osteoarthropathy.

    PubMed

    Prieto, G; Polanco, I; Sarria, J; Larrauri, J; Lassaletta, L

    1990-07-01

    The juvenile form is the usual type of colonic polyp seen during childhood. However, mixed forms associating juvenile and adenomatous polyps have been reported. A syndrome including the association of generalized juvenile polyposis, pulmonary arteriovenous malformation, and hypertrophic osteoarthropathy has been described in three cases; however, this is the first report of the association of mixed juvenile and adenomatous polyposis, pulmonary arteriovenous malformation, and hypertrophic osteoarthropathy.

  4. 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.

  5. 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.

  6. Pyloric stenosis - infant

    MedlinePlus

    ... Vomiting is forceful (projectile vomiting) The infant is hungry after vomiting and wants to feed again Other ... birth and may include: Abdominal pain Burping Constant hunger Dehydration (gets worse as vomiting gets worse) Failure ...

  7. 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 ...

  8. Alexander disease with mild dorsal brainstem atrophy and infantile spasms.

    PubMed

    Torisu, Hiroyuki; Yoshikawa, Yoko; Yamaguchi-Takada, Yui; Yano, Tamami; Sanefuji, Masafumi; Ishizaki, Yoshito; Sawaishi, Yukio; Hara, Toshiro

    2013-05-01

    We present the case of a Japanese male infant with Alexander disease who developed infantile spasms at 8 months of age. The patient had a cluster of partial seizures at 4 months of age. He presented with mild general hypotonia and developmental delay. Macrocephaly was not observed. Brain magnetic resonance imaging (MRI) findings fulfilled all MRI-based criteria for the diagnosis of Alexander disease and revealed mild atrophy of the dorsal pons and medulla oblongata with abnormal intensities. DNA analysis disclosed a novel heterozygous missense mutation (c.1154 C>T, p.S385F) in the glial fibrillary acidic protein gene. At 8 months of age, tonic spasms occurred, and electroencephalography (EEG) revealed hypsarrhythmia. Lamotrigine effectively controlled the infantile spasms and improved the abnormal EEG findings. Although most patients with infantile Alexander disease have epilepsy, infantile spasms are rare. This comorbid condition may be associated with the distribution of the brain lesions and the age at onset of Alexander disease.

  9. Endostatin inhibits hypertrophic scarring in a rabbit ear model*

    PubMed Central

    Ren, Hai-tao; Hu, Hang; Li, Yuan; Jiang, Hong-fei; Hu, Xin-lei; Han, Chun-mao

    2013-01-01

    Objective: The present study was designed to use an in vivo rabbit ear scar model to investigate the efficacy of systemic administration of endostatin in inhibiting scar formation. Methods: Eight male New Zealand white rabbits were randomly assigned to two groups. Scar model was established by making six full skin defect wounds in each ear. For the intervention group, intraperitoneal injection of endostatin was performed each day after the wound healed (about 15 d post wounding). For the control group, equal volume of saline was injected. Thickness of scars in each group was measured by sliding caliper and the scar microcirculatory perfusion was assessed by laser Doppler flowmetry on Days 15, 21, 28, and 35 post wounding. Rabbits were euthanatized and their scars were harvested for histological and proteomic analyses on Day 35 post wounding. Results: Macroscopically, scars of the control group were thicker than those of the intervention group. Significant differences between the two groups were observed on Days 21 and 35 (p<0.05). Scar thickness, measured by scar elevation index (SEI) at Day 35 post wounding, was significantly reduced in the intervention group (1.09±0.19) compared with the controls (1.36±0.28). Microvessel density (MVD) observed in the intervention group (1.73±0.94) was significantly lower than that of the control group (5.63±1.78) on Day 35. The distribution of collagen fibers in scars treated with endostatin was relatively regular, while collagen fibers in untreated controls were thicker and showed disordered alignment. Western blot analysis showed that the expressions of type I collagen and Bcl-2 were depressed by injection of endostatin. Conclusions: Our results from the rabbit ear hypertrophic scar model indicate that systemic application of endostatin could inhibit local hypertrophic scar formation, possibly through reducing scar vascularization and angiogenesis. Our results indicated that endostatin may promote the apoptosis of

  10. 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.

  11. Propofol improves recovery of the isolated working hypertrophic heart from ischaemia-reperfusion.

    PubMed

    King, Nicola; Al Shaama, Madj; Suleiman, M-Saadeh

    2012-11-01

    The general anaesthetic propofol shows promise in protecting normal hearts against various cardiac insults, but little is known about its cardioprotective potential in hypertrophic hearts. This study tested the hypothesis that propofol at a clinically relevant dose would enhance functional recovery in hypertrophic hearts following ischaemia. Hypertrophic hearts from spontaneously hypertensive rats and hearts from their normotensive controls, Wistar Kyoto Rats, were equilibrated in the working mode prior to global normothermic ischaemia. Reperfusion commenced with 10 min in Langendorff mode, followed by 30-min working reperfusion. Functional performance was measured throughout the working mode, whilst reperfusion damage was assessed from myocardial troponin I release during Langendorff reperfusion. Where used, 4 μg/ml propofol was added 10 min before ischaemia and was washed out 10 min into working reperfusion. An additional protocol investigated recovery of hearts protected by normothermic hyperkalaemic cardioplegic arrest. Following 20-min ischaemia, reperfusion damage was significantly worse in hypertrophic hearts compared to normal hearts, whilst addition of propofol to hypertrophic hearts significantly improved the aortic flow (31 ± 5.8 vs. 11.6 ± 2.0 ml/min, n = 6-7 ± SE, p < 0.05). Propofol also conferred significant protection following 30-min ischaemia where the recovery of cardiac output and stroke volume was similar to that for cardioplegia alone. Incubation with propofol improved the NADH/NAD(+) ratio in freshly isolated cardiomyocytes from hypertrophic hearts, suggesting possible improvements in metabolic flux. These findings suggest that propofol at the clinically relevant dose of 4 μg/ml is as effective as cardioplegic arrest in protecting hypertrophic hearts against ischaemia-reperfusion.

  12. [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.

  13. Infantile colic: is a pain syndrome.

    PubMed

    Gudmundsson, Gardar

    2010-12-01

    The hypothesis states that infantile colic is a pain syndrome and the excessive crying leads to aerophagia and abdominal discomfort. The pain comes from sucking the bottle or the nipple. Feeding for the infant is a heavy workload for the masticatory muscles. The tiny digastricus muscle moves the hyoid bone, takes part in opening the mouth and retrusion of the mandible and assists in mowing the tongue upward, forward and backwards. In the adult population pain from this muscle is well documented. The hypothesis explains the crying as being due to muscular pain at first, later on pain from the origins and insertions of the muscle. Then with increased muscular strength and development the pain fades away. PMID:20729004

  14. 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.

  15. Neonatal Abdominal Hemangiomatosis: Propranolol beyond Infantile Hemangioma

    PubMed Central

    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. PMID:27110421

  16. [An epileptic syndrome in infantile cerebral palsy].

    PubMed

    Sumerkina, M L

    1997-01-01

    The results of examination of 102 patients with infantile cerebral paralysis (ICP) with epileptic syndrome (ES) at the age from 3 months to 14 years are presented. Epileptic fits predominated in patients with hemiparetic form of ICP (40.8%) and spastic diplegia (32.4%). ES manifestations were observed in ICP during the first 3 years of life (more than 80% of cases). The peculiarities of ES clinical course were revealed. There were determined the main types of seizures in patients with ICP which depended on age of their manifestation, as well as their further transformation and prognosis. Computer tomographic and EEG-correlations were established in different forms of ICP. They permitted to revealed pathogenetic mechanisms of ES development in patients with ICP and to determine therapeutic policy and prognosis of the disease. PMID:9163254

  17. Infantile Digital Fibroma: A Rare Fibromatosis.

    PubMed

    Marks, Etan; Ewart, Michelle

    2016-10-01

    Infantile digital fibroma is a rare benign lesion that usually occurs during the first 2 years of life. It can be multiple, but it is usually a single lesion. If it grows large enough it can cause joint deformities or interfere with everyday activities. Microscopically, the neoplastic cells usually have inclusion bodies that are best highlighted with a Masson trichrome stain but can often be seen on hematoxylin-eosin staining. Treatment for this entity is usually watchful waiting because of its ability to spontaneously regress, but excision is recommended if the lesion is symptomatic. More recently, fluorouracil or injectable steroids have shown great promise in inducing regression without the complications that accompany surgery.

  18. 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

  19. Infantile Digital Fibroma: A Rare Fibromatosis.

    PubMed

    Marks, Etan; Ewart, Michelle

    2016-10-01

    Infantile digital fibroma is a rare benign lesion that usually occurs during the first 2 years of life. It can be multiple, but it is usually a single lesion. If it grows large enough it can cause joint deformities or interfere with everyday activities. Microscopically, the neoplastic cells usually have inclusion bodies that are best highlighted with a Masson trichrome stain but can often be seen on hematoxylin-eosin staining. Treatment for this entity is usually watchful waiting because of its ability to spontaneously regress, but excision is recommended if the lesion is symptomatic. More recently, fluorouracil or injectable steroids have shown great promise in inducing regression without the complications that accompany surgery. PMID:27684985

  20. Pharmacological treatment of hypertrophic cardiomyopathy: current practice and novel perspectives.

    PubMed

    Ammirati, Enrico; Contri, Rachele; Coppini, Raffaele; Cecchi, Franco; Frigerio, Maria; Olivotto, Iacopo

    2016-09-01

    Hypertrophic cardiomyopathy (HCM) is entering a phase of intense translational research that holds promise for major advances in disease-specific pharmacological therapy. For over 50 years, however, HCM has largely remained an orphan disease, and patients are still treated with old drugs developed for other conditions. While judicious use of the available armamentarium may control the clinical manifestations of HCM in most patients, specific experience is required in challenging situations, including deciding when not to treat. The present review revisits the time-honoured therapies available for HCM, in a practical perspective reflecting real-world scenarios. Specific agents are presented with doses, titration strategies, pros and cons. Peculiar HCM dilemmas such as treatment of dynamic outflow obstruction, heart failure caused by end-stage progression and prevention of atrial fibrillation and ventricular arrhythmias are assessed. In the near future, the field of HCM drug therapy will rapidly expand, based on ongoing efforts. Approaches such as myocardial metabolic modulation, late sodium current inhibition and allosteric myosin inhibition have moved from pre-clinical to clinical research, and reflect a surge of scientific as well as economic interest by academia and industry alike. These exciting developments, and their implications for future research, are discussed. PMID:27109894

  1. 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.

  2. 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.

  3. Factors Associated with Uptake of Genetics Services for Hypertrophic Cardiomyopathy.

    PubMed

    Khouzam, Amirah; Kwan, Andrea; Baxter, Samantha; Bernstein, Jonathan A

    2015-10-01

    Hypertrophic cardiomyopathy (HCM) is a common cardiovascular disorder with variable expressivity and incomplete penetrance. Clinical guidelines recommend consultation with a genetics professional as part of an initial assessment for HCM, yet there remains an underutilization of genetics services. We conducted a study to assess factors associated with this underutilization within the framework of the Health Belief Model (HBM). An online survey was completed by 306 affected individuals and at risk family members. Thirty-seven percent of individuals (113/306) had visited a genetics professional for reasons related to HCM. Genetic testing was performed on 53 % (162/306). Individuals who had undergone testing were more likely to have seen a genetics professional (p < 0.001), had relatives with an HCM diagnosis (p = 0.002), and have a known familial mutation (p < 0.001). They were also more likely to agree that genetic testing would satisfy their curiosity (p < 0.001), provide reassurance (p < 0.001), aid family members in making healthcare decisions (p < 0.001), and encourage them to engage in a healthier lifestyle (p = 0.002). The HBM components of cues to action and perceived benefits and barriers had the greatest impact on uptake of genetic testing. In order to ensure optimal counseling and care for individuals and families with HCM, awareness and education around HCM and genetic services should be promoted in both physicians and patients alike.

  4. Echocardiographic diagnosis of the different phenotypes of hypertrophic cardiomyopathy.

    PubMed

    Parato, Vito Maurizio; Antoncecchi, Valeria; Sozzi, Fabiola; Marazia, Stefania; Zito, Annapaola; Maiello, Maria; Palmiero, Pasquale

    2016-01-01

    Hypertrophic Cardiomyopathy (HCM) is an inherited cardiovascular disorder of great genetic heterogeneity and has a prevalence of 0.1 - 0.2 % in the general population. Several hundred mutations in more than 27 genes, most of which encode sarcomeric structures, are associated with the HCM phenotype. Then, HCM is an extremely heterogeneous disease and several phenotypes have been described over the years. Originally only two phenotypes were considered, a more common, obstructive type (HOCM, 70 %) and a less common, non-obstructive type (HNCM, 30 %) (Maron BJ, et al. Am J Cardiol 48:418 -28, 1981). Wigle et al. (Circ 92:1680-92, 1995) considered three types of functional phenotypes: subaortic obstruction, midventricular obstruction and cavity obliteration. A leader american working group suggested that HCM should be defined genetically and not morphologically (Maron BJ, et al. Circ 113:1807-16, 2006). The European Society of Cardiology Working Group on Myocardial and Pericardial Diseases recommended otherwise a morphological classification (Elliott P, et al. Eur Heart J 29:270-6, 2008). Echocardiography is still the principal tool for the diagnosis, prognosis and clinical management of HCM. It is well known that the echocardiographic picture may have a clinical and prognostic impact. For this reason, in this article, we summarize the state of the art regarding the echocardiographic pattern of the HCM phenotypes and its impact on clinical course and prognosis. PMID:27519172

  5. 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.

  6. 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.

  7. 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

  8. Effect of Hematoporphyrin Monomethyl Ether-Sonodynamic Therapy (HMME-SDT) on Hypertrophic Scarring

    PubMed Central

    Liu, Youbin; Wu, Yin; Li, Hongxi; Zhao, Chengbin; Li, Huazhe; Meng, Qinggang; Li, Wei

    2014-01-01

    Objective The aim of the present study was to explore the potential for hematoporphyrin monomethyl ether-Sonodynamic Therapy (HMME-SDT) treatment of hypertrophic scars within rabbit ears. Methods 60 white rabbits were randomly divided into five groups: 1) untreated controls, 2) lesioned, 3) lesioned + HMME, 4) lesioned + US (Ultrasound), and 5) lesioned +HMME-SDT. After induction of a lesion upon the ears of the rabbits, hypertrophic scars were assessed at 14, 28, 42 and 56 days post-lesion +/− treatment. Assessments consisted of visual inspection in the change of the skin, scar formation pathological morphology by hematoxylin and eosin (HE) staining technique with optical microscopy, calculation of a hypertrophic index, fibroblastic density measures, and observation of collagen changes in the scar tissue by Van Gieson's (VG)Stain along with calculation of collagen area density. Results With continued HMME-SDT treatment there was a gradual improvement in all parameters over the duration of the experiment. The lesion-induced scars of rabbits receiving HMME-SDT treatment were soft, the size was reduced, hyperplasia was flat and the color pale. The fibroblasts and collagens were reduced and the collagens were light red, sparse and orderly. The hypertrophic index was reduced, since the fibroblastic density was lowered and collagen area density was decreased. Conclusion HMME is an effective sonosensitizer and the combination of HMME-SDT treatment can exert significant benefits in reducing the formation of hypertrophic scars. PMID:24465834

  9. Paclitaxel reduces formation of hypertrophic scars in the rabbit ear model

    PubMed Central

    Huang, Li-ping; Wang, Guo-qi; Jia, Zi-shan; Chen, Jing-wen; Wang, Gang; Wang, Xing-lin

    2015-01-01

    Background and objective The onset and progression of pathological scarring involves multiple cytokines and complex mechanisms. However, hyperplasia of fibroblasts and neovascularization plays important roles, which can be inhibited by paclitaxel. The aim of this study was to investigate the efficacy of paclitaxel in the treatment of hypertrophic scars on rabbit ears. Methods Rabbit ear models of hypertrophic scars were established to observe the therapeutic effects of paclitaxel at different concentrations (12 mg/L, 24 mg/L, 48 mg/L, 96 mg/L, 18 mg/L, 54 mg/L, 162 mg/L, 486 mg/L, 30 mg/L, 150 mg/L, 750 mg/L, 3,750 mg/L). The outcome measures included hypertrophic index (HI), density of fibroblasts, density of collagenous fibers, and microvessel density. Results In comparison with the control group, the concentrations of 96 mg/L, 150 mg/L, and 162 mg/L significantly reduce the formation of hypertrophic scars in the rabbit ear models. However, local necrosis was found in the rabbit ear models treated with paclitaxel solution >400 mg/L. Conclusion Paclitaxel has strong inhibitory effects on the hyperplasia of fibroblasts, deposition of collagen, and microangiogenesis in hypertrophic scars on rabbit ears within the concentration range from 48 mg/L to 162 mg/L, without causing local necrosis. PMID:26251604

  10. Hypertrophic phenotype in cardiac cell assemblies solely by structural cues and ensuing self-organization

    PubMed Central

    Chung, Chiung-yin; Bien, Harold; Sobie, Eric A.; Dasari, Vikram; McKinnon, David; Rosati, Barbara; Entcheva, Emilia

    2011-01-01

    In vitro models of cardiac hypertrophy focus exclusively on applying “external” dynamic signals (electrical, mechanical, and chemical) to achieve a hypertrophic state. In contrast, here we set out to demonstrate the role of “self-organized” cellular architecture and activity in reprogramming cardiac cell/tissue function toward a hypertrophic phenotype. We report that in neonatal rat cardiomyocyte culture, subtle out-of-plane microtopographic cues alter cell attachment, increase biomechanical stresses, and induce not only structural remodeling, but also yield essential molecular and electrophysiological signatures of hypertrophy. Increased cell size and cell binucleation, molecular up-regulation of released atrial natriuretic peptide, altered expression of classic hypertrophy markers, ion channel remodeling, and corresponding changes in electrophysiological function indicate a state of hypertrophy on par with other in vitro and in vivo models. Clinically used antihypertrophic pharmacological treatments partially reversed hypertrophic behavior in this in vitro model. Partial least-squares regression analysis, combining gene expression and functional data, yielded clear separation of phenotypes (control: cells grown on flat surfaces; hypertrophic: cells grown on quasi-3-dimensional surfaces and treated). In summary, structural surface features can guide cardiac cell attachment, and the subsequent syncytial behavior can facilitate trophic signals, unexpectedly on par with externally applied mechanical, electrical, and chemical stimulation.—Chung, C., Bien, H., Sobie, E. A., Dasari, V., McKinnon, D., Rosati, B., Entcheva, E. Hypertrophic phenotype in cardiac cell assemblies solely by structural cues and ensuing self-organization. PMID:21084696

  11. The treatment of keloids and hypertrophic scars with intralesional bleomycin in skin of color.

    PubMed

    Payapvipapong, Kittisak; Niumpradit, Nucha; Piriyanand, Chotinand; Buranaphalin, Sawanya; Nakakes, Artit

    2015-03-01

    Intralesional injection with corticosteroid remains the mainstay of therapy for hypertrophic scars and keloids, however some lesions are unresponsive or may result in skin atrophy. Intralesional bleomycin injection is an alternative therapy that has been widely reported. In order to compare the effectiveness and safety of bleomycin for the treatment of keloids and hypertrophic scars in skin of color population, Fitzpatrick skin type III to V patients with keloids or hypertrophic scars were randomized into two groups. Group A was treated monthly with intralesional triamcinolone acetonide (10 mg/mL), while group B with intralesional bleomycin (1 mg/mL) for three consecutive months. Evaluation of the treatment was performed using "Patient and Observer Scar Assessment Scale" (POSAS), self-rated patient satisfaction score, photography, and ultrasonography. Two patients had their bleomycin blood levels monitored. Twenty-six patients with keloids or hypertrophic scars were recruited. The clinical improvement as assessed by the POSAS was not statistically significant. In terms of patients satisfaction score, one half of both groups reported a very good improvement. Photographic as well as ultrasonographic evaluation showed no difference between the two groups. Bleomycin was found to enter the blood circulation in a very small amount. The major side effect was hyperpigmentation. There was no skin atrophy detected in this study. Intralesional bleomycin is a safe and effective treatment for keloids and hypertrophic scars. The treatment is comparable to intralesional triamcinolone. Unfortunately, hyperpigmentation was the major side effect in darker skin type.

  12. Morphologic stages of the terminal hypertrophic chondrocyte of growth plate cartilage.

    PubMed

    Farnum, C E; Wilsman, N J

    1987-11-01

    Recent biochemical and morphologic evidence supports the concept that hypertrophic chondrocytes of growth plate cartilage are fully viable cells that play a major functional role in controlling endochondral ossification. However, events associated with chondrocyte death remain unknown. In this study we assess the viability of terminal hypertrophic chondrocytes in situ in an organ culture system viewed simultaneously with rectified Nomarski interference contrast optics and with vital staining under fluorescence optics. Second, we use two methods of optimal chemical fixation at the ultrastructural level to define morphologically distinct stages of the terminal hypertrophic chondrocyte, which we interpret as the stages preceding chondrocyte death. An analysis of serial sections at the light microscope level showed that terminal chondrocytes were found, with different probabilities, in three morphologically distinguishable stages. Seventy-five percent of all profiles were fully hydrated cells with an intact plasma membrane making direct contact with the pericellular matrix, a morphology identical to that of living terminal chondrocytes viewed in Nomarski optics. Approximately 1% of terminal chondrocytes, while still in a fully hydrated state, consistently made a direct asymmetrical contact of the plasma membrane with the last transverse septum. In 24% of the profiles, terminal chondrocytes were found as condensed cells that retained their attachment to the last transverse septum. The stages were not characteristic of chondrocytes positioned more proximally in the growth plate. We hypothesize that a condensed morphology eventually characterizes each hypertrophic chondrocyte, and we relate these observations to current hypotheses concerning the mechanism of death of hypertrophic chondrocytes. PMID:3425941

  13. Relationship between p53 gene codon-72 polymorphisms and hypertrophic scar formation following caesarean section.

    PubMed

    Gao, Jianhua; Chen, Ying; Liao, Nong; Zhao, Wei; Zeng, Weisen; Li, Yingtao; Wang, Shaojing; Lu, Feng

    2014-05-01

    The aim of the present study was to determine the relationship between p53 gene codon-72 polymorphisms and hypertrophic scar formation following caesarean section (CS). Blood samples from 260 female patients were collected one week following a CS for the detection of p53 gene polymorphisms using a molecular beacon-coupled quantitative polymerase chain reaction technique. Patients had follow-ups for 12-18 months to observe the scar formation. From these observations, the relationship between the p53 codon-72 polymorphisms and hypertrophic scar formation occurrence was investigated. Among the patients with the CCC/CCC genotype, nine patients had hypertrophic scars and 46 patients showed normal healing, which is a ratio of 0.19. However, the follow-up investigations indicated that the presence of a homozygous or heterozygous C-to-G alteration at the codon-72 site in gene p53 resulted in 13 patients with hypertrophic scars and 192 patients with normal healing, which is a ratio of 0.07. Therefore, these results indicate that patients with the CCC/CCC genotype had a higher risk of developing hypertrophic scars compared with that for patients with the CCC/CGC or CGC/CGC genotypes.

  14. Staphylococcus hominis native mitral valve bacterial endocarditis (SBE) in a patient with hypertrophic obstructive cardiomyopathy.

    PubMed

    Cunha, Burke A; Esrick, Michael D; Larusso, Melissa

    2007-01-01

    There are several species of coagulase-negative Staphylococci (CoNS) that are part of the normal skin flora and are relatively noninvasive/low virulence organisms. CoNS are important pathogens in patients with prosthetic devices and are the most common pathogen associated with prosthetic valve endocarditis. CoNS native valve infective endocarditis (IE) is rare. Patients with hypertrophic obstructive cardiomyopathy and an outflow pressure gradient greater than 30 mm Hg are predisposed to IE. There has been only one reported case of non-mitral valve IE due to CoNS in a patient with hypertrophic obstructive cardiomyopathy. To the best of our knowledge, we report the first case of Staphylococcal hominis mitral valve endocarditis in a patient with hypertrophic obstructive cardiomyopathy.

  15. Tenosynovitis of the peroneal tendons associated with a hypertrophic peroneal tubercle: radiography and MRI findings

    PubMed Central

    Celikyay, Fatih; Yuksekkaya, Ruken; Almus, Ferdag; Bilgic, Erkal

    2014-01-01

    An enlarged peroneal tubercle can cause a peroneal tendon tear and/or tenosynovitis due to chronic friction. We present the case of a 45-year-old man with tenosynovitis in the peroneus longus and brevis tendons associated with a hypertrophic peroneal tubercle. On admission to our facility, the patient presented with pain while walking and had a fixed mass on the lateral aspect of his right foot. In addition, an osseous prominence corresponding to a hypertrophic peroneal tubercle was seen on the lateral side of the right calcaneus on radiography. MRI confirmed the hypertrophic peroneal tubercle and revealed high-signal intensity within the peroneus longus and brevis tendons along with fluid in their sheaths. PMID:24748135

  16. Hypertrophy of the feet and ankles presenting in primary hypertrophic osteoarthropathy or pachydermoperiostosis: a case report

    PubMed Central

    2012-01-01

    Introduction Pachydermoperiostosis or primary hypertrophic osteoathropathy is a rare genetic disease with autosomal transmission. This disorder, which affects both bones and skin, is characterized by the association of dermatologic changes (pachydermia or thickening of the skin) and rheumatologic manifestations (periostosis and finger clubbing). Here, we report a new observation of pachydermoperiostosis. Case presentation A 20-year-old North African Tunisian Caucasian man presented with hypertrophic osteoarthropathy. On a clinical examination, we found morphologic abnormalities of his face and extremities associated with skin changes. The laboratory findings were normal. A work-up disclosed no organic etiology. The final diagnosis consisted of pachydermoperiostosis syndrome. Conclusion Pachydermoperiostosis is a rare entity that should be differentiated from secondary hypertrophic osteoarthropathy and chronic rheumatic diseases. PMID:22273836

  17. 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.

  18. Radiofrequency catheter septal ablation for hypertrophic obstructive cardiomyopathy in children

    PubMed Central

    Emmel, M.; Sreeram, N.

    2005-01-01

    Background The definitive therapeutic options for symptomatic obstructive cardiomyopathy in childhood are restricted. At present, extensive surgical myectomy is the only procedure that is of proven benefit. Patients and Methods Three patients, aged 5, 11 and 17 years, respectively, with progressive hypertrophic obstructive cardiomyopathy and increasing symptoms were considered for radiofrequency catheter septal ablation. The peak Doppler gradient recorded on several occasions ranged between 50 to 90mmHg. Via a femoral arterial approach, the His bundle was initially plotted and marked using the LocaLisa navigation system. Subsequently, using a cooled tip catheter a series of lesions were placed in the hypertrophied septum, taking care to stay away from the His bundle. A total of 17, 50 and 45 lesions were applied in the three patients. In one case, the procedure was complicated by two episodes of ventricular fibrillation requiring DC cardioversion but without any neurological sequelae. Results The preablation peak-to-peak gradient between left ventricle and aorta was 50 mmHg, 60 mmHg and 60 mmHg, respectively, and remained unchanged immediately after the procedure. All patients were discharged from hospital 48 hours later. Serial measurement of serum troponin T and CK-MB isoenzyme confirmed significant myocardial necrosis. Follow-up echocardiography both at seven days and at six weeks postablation confirmed a beneficial haemodynamic result, with reduction of left ventricular outflow obstruction and relief of symptoms. Conclusion In young children, in whom alcohol-induced septal ablation is not an option, radiofrequency catheter ablation offers an alternative to surgery, with the benefits of repeatability and a lower risk of procedure-related permanent AV block. ImagesFigure 1Figure 2Figure 3Figure 4 PMID:25696442

  19. 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

  20. A Murine Hypertrophic Cardiomyopathy Model: The DBA/2J Strain.

    PubMed

    Zhao, Wenyuan; Zhao, Tieqiang; Chen, Yuanjian; Zhao, Fengbo; Gu, Qingqing; Williams, Robert W; Bhattacharya, Syamal K; Lu, Lu; Sun, Yao

    2015-01-01

    Familial hypertrophic cardiomyopathy (HCM) is attributed to mutations in genes that encode for the sarcomere proteins, especially Mybpc3 and Myh7. Genotype-phenotype correlation studies show significant variability in HCM phenotypes among affected individuals with identical causal mutations. Morphological changes and clinical expression of HCM are the result of interactions with modifier genes. With the exceptions of angiotensin converting enzyme, these modifiers have not been identified. Although mouse models have been used to investigate the genetics of many complex diseases, natural murine models for HCM are still lacking. In this study we show that the DBA/2J (D2) strain of mouse has sequence variants in Mybpc3 and Myh7, relative to widely used C57BL/6J (B6) reference strain and the key features of human HCM. Four-month-old of male D2 mice exhibit hallmarks of HCM including increased heart weight and cardiomyocyte size relative to B6 mice, as well as elevated markers for cardiac hypertrophy including β-myosin heavy chain (MHC), atrial natriuretic peptide (ANP), brain natriuretic peptide (BNP), and skeletal muscle alpha actin (α1-actin). Furthermore, cardiac interstitial fibrosis, another feature of HCM, is also evident in the D2 strain, and is accompanied by up-regulation of type I collagen and α-smooth muscle actin (SMA)-markers of fibrosis. Of great interest, blood pressure and cardiac function are within the normal range in the D2 strain, demonstrating that cardiac hypertrophy and fibrosis are not secondary to hypertension, myocardial infarction, or heart failure. Because D2 and B6 strains have been used to generate a large family of recombinant inbred strains, the BXD cohort, the D2 model can be effectively exploited for in-depth genetic analysis of HCM susceptibility and modifier screens.

  1. Smac/DIABLO regulates the apoptosis of hypertrophic scar fibroblasts.

    PubMed

    Liu, Bao-Heng; Chen, Liang; Li, Shi-Rong; Wang, Zhen-Xiang; Cheng, Wen-Guang

    2013-09-01

    In abnormal skin wound healing, hypertrophic scars (HS) are characterized by excessive fibroblast hypercellularity and an overproduction of collagen, leading to atypical extracellular matrix (ECM) remodeling. Although the exact mechanisms of HS remain unclear, decreased HS fibroblast (HSFB) apoptosis and increased proliferation are evident in the development of HS. In this study, the contribution of the second mitochondria-derived activator of caspases/direct inhibitor of apoptosis protein (IAP)-binding protein with a low isoelectric point (pI) (Smac/DIABLO), an apoptosis-promoting protein released from the mitochondria, was investigated in human normal skin and HSFB cultures. The expression of Smac/DIABLO is usually decreased in many malignant tumors compared with normal tissues. Immunohistochemical analysis of skin tissues and the western blot analyses of fibroblasts revealed that the expression of Smac/DIABLO was lower in HS tissues compared with normal skin tissues. Of note, adenovirus-mediated Smac/DIABLO overexpression in the cultured HSFBs significantly reduced cell proliferation, as detected by the cell counting kit-8, and increased caspase-3 and -9 activity, as detected by spectrofluorimetry. In addition, it increased apoptosis, as detected by fluorescence-activated cell sorting (FACS). Furthermore, we found that the silencing of Smac with siRNA in the HSFBs induced a noticeable decrease in caspase-3 and -9 activity, leading to a significant reduction in apoptosis. In addition, the mRNA expression of type I and III pro-collagen detected in the HSFBs was significantly increased following the silencing of Smac with siRNA and was inhibited following Smac/DIABLO overexpression, as shown by real-time RT-PCR. In conclusion, Smac/DIABLO decreases the proliferation and increases the apoptosis of HSFBs. To our knowledge, the data from our study suggest for the first time that Smac/DIABLO is a novel therapeutic target for HS.

  2. Angiotensin converting enzyme gene polymorphism in familial hypertrophic cardiomyopathy patients

    SciTech Connect

    Yu, B; Peric, S.; Ross, D.

    1994-09-01

    An insertion/deletion (I/D) polymorphism of the angiotensin I converting enzyme (ACE) gene is a useful predictor of human plasma ACE levels. ACE levels tend to be lowest in subjects with ACE genotype DD and intermediate in subjects with ACE genotype ID. Angiotensin II (Ang II) as a product of ACE is a cardiac growth factor and produces a marked hypertrophy of the chick myocyte in cell culture. Rat experiments also suggest that a small dose of ACE inhibitor that does not affect the afterload results in prevention or regression of cardiac hypertrophy. In order to study the relationship of ACE and the severity of hypertrophy, the ACE genotype has been determined in 28 patients with a clinical diagnosis of familial hypertrophic cardiomyopathy (FHC) and 51 normal subjects. The respective frequencies of I and D alleles were: 0.52 and 0.48 (in FHC patients) and 0.44 and 0.56 (in the normal controls). There was no significant difference in the allele frequencies between FHC and normal subjects ({chi}{sup 2}=0.023, p>0.05). The II, ID, and DD genotypes were present in 7, 15, and 6 FHC patients, respectively. The averages of maximal thickness of the interventricular septum measured by echocardiography or at autopsy were 18 {plus_minus}3, 19{plus_minus}4, and 19{plus_minus}3 mm in II, ID and DD genotypes, respectively. The ACE gene polymorphism did not correlate with the severity of left ventricular hypertrophy in FHC patients (r{sub s}=0.231, p>0.05). These results do not necessarily exclude the possible effect of Ang II on the hypertrophy since the latter may be produced through the action of chymase in the human ventricles. However, ACE gene polymorphism is not a useful predictor of the severity of myocardial hypertrophy in FHC patients.

  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. 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

  5. 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

  6. Arthralgia and digital clubbing in a child: hypertrophic osteoarthropathy with inflammatory pseudotumour of the lung.

    PubMed

    Pichler, G; Eber, E; Thalhammer, G; Muntean, W; Zach, M S

    2004-01-01

    Arthralgia in childhood is an unspecific symptom. One rare cause of arthralgia is hypertrophic osteoarthropathy associated with digital clubbing. We present a child where hypertrophic osteoarthropathy led to the rare diagnosis of an inflammatory pseudotumour of the lung. In a 12-year-old girl with arthralgia and digital clubbing, a chest radiograph disclosed a large round mass in the right upper lobe, and the following chest computed tomography scan showed a large solid homogenous, round, well marginated lesion with little contrast enhancement. A lobectomy of the right upper lobe was performed, and histological examination showed an inflammatory pseudotumour. The postoperative course was without problems: arthralgia and digital clubbing disappeared.

  7. Anaesthetic management of severe hypertrophic obstructive cardiomyopathy with bronchial asthma for emergency caesarean section.

    PubMed

    Rajesh, M C; Varma, Ravi; Lima, P; Ramdas, E K

    2012-10-01

    A 39-year-old primi and a known case of hypertrophic obstructive cardiomyopathy presented for emergency lower segment caesarean section. She was also an asthmatic with a recent exacerbation. She underwent uneventful lower segment caesarean section under general anaesthesia with lumbar epidural analgesia for postoperative pain relief. Anaesthetic agents and techniques were selected to suit the haemodynamic profile of severe hypertrophic obstructive cardiomyopathy in pregnancy. The case has been reported because of successful outcome in an emergency scenario with such high intraventricular gradients and omissions in the case so that it will be of benefit to readers who may happen to land up in similar situations. PMID:23738413

  8. Identification and characterization of the novel Col10a1 regulatory mechanism during chondrocyte hypertrophic differentiation

    PubMed Central

    Gu, J; Lu, Y; Li, F; Qiao, L; Wang, Q; Li, N; Borgia, J A; Deng, Y; Lei, G; Zheng, Q

    2014-01-01

    The majority of human skeleton develops through the endochondral pathway, in which cartilage-forming chondrocytes proliferate and enlarge into hypertrophic chondrocytes that eventually undergo apoptosis and are replaced by bone. Although at a terminal differentiation stage, hypertrophic chondrocytes have been implicated as the principal engine of bone growth. Abnormal chondrocyte hypertrophy has been seen in many skeletal dysplasia and osteoarthritis. Meanwhile, as a specific marker of hypertrophic chondrocytes, the type X collagen gene (COL10A1) is also critical for endochondral bone formation, as mutation and altered COL10A1 expression are often accompanied by abnormal chondrocyte hypertrophy in many skeletal diseases. However, how the type X collagen gene is regulated during chondrocyte hypertrophy has not been fully elucidated. We have recently demonstrated that Runx2 interaction with a 150-bp mouse Col10a1 cis-enhancer is required but not sufficient for its hypertrophic chondrocyte-specific reporter expression in transgenic mice, suggesting requirement of additional Col10a1 regulators. In this study, we report in silico sequence analysis of this 150-bp enhancer and identification of its multiple binding factors, including AP1, MEF2, NFAT, Runx1 and TBX5. Using this enhancer as bait, we performed yeast one-hybrid assay and identified multiple candidate Col10a1-interacting genes, including cyclooxygenase 1 (Cox-1) and Cox-2. We have also performed mass spectrometry analysis and detected EF1-alpha, Fus, GdF7 and Runx3 as components of the specific complex formed by the cis-enhancer and nuclear extracts from hypertrophic MCT (mouse chondrocytes immortalized with large T antigen) cells that express Col10a1 abundantly. Notably, some of the candidate genes are differentially expressed in hypertrophic MCT cells and have been associated with chondrocyte hypertrophy and Runx2, an indispensible Col10a1 regulator. Intriguingly, we detected high-level Cox-2 expression in

  9. [Infantile meningitis caused by respiratory syncytial virus].

    PubMed

    Shirota, Go; Morozumi, Miyuki; Ubukata, Kimiko; Shiro, Hiroyuki

    2011-11-01

    Respiratory syncytial (RS) virus commonly causes infantile respiratory tract infection causing significant morbidity and mortality, but rarely meningitis. We report a case of meningitis caused by RS virus subgroup B in a 56-day-old boy admitted for high fever who underwent blood examination and lumbar puncture. Empirical chemotherapy was started with intravenous ampicillin, gentamicin, and cefotaxime based on laboratory data on CSF cells (84/microL) and serum CRP (13.8mg/dL) data. RS virus subgroup B was only detected using real-time PCR comprehensive reverse transcription from the first CSF, but no bacterial gene was detected. No bacteria grew from his CSF, urine, or blood. Fever and serum CRP dropped in a few days. He had neither seizures nor disturbance of consciousness and was discharged on day 11 after admission. No evidence of encephalopathy was detected in brain MRI or electroencephalography. RS virus rarely causes meningitis, but a percentage of RS-virus-infected infants exhibit symptoms such as seizure and disturbance of consciousness. We should recognize that the RS virus may cause neurological complications associated with high morbidity and mortality.

  10. [Accompanying symptoms in infantile spastic hemiplegia].

    PubMed

    Feldkamp, M; Schuknecht, C; Eisenkolb, T

    1985-01-01

    Various concomitant disorders in 535 children with infantile hemiplegia were evaluated; 159 of the cases were particularly well documented. The right/left distribution of the hemiplegia was 56 to 44, the ratio of boys to girls 59 to 41. Severe impairments of hand function (lack of function, first grip) were found more frequently in right hemiplegics than left; the ratio of severe to slight disorders was approx. 3 to 1 in right hemiplegics and 3 to 2 in left hemiplegics. Impairment of hand function was closely related to the quality of sensitivity, the tests of this being based on two-point discrimination and stereognosis. Sixty-two percent of the children were of normal intelligence; of the remainder, approximately equal-sized groups suffered from impairment of the learning faculty or were mentally retarded. There was a positive correlation between reduced intelligence and the severity of impairment of hand function. Impaired speech development was found in 7 percent of the children, right and left hemiplegics being equally affected. Thus, there was no evidence that the brain lesion had any special influence on development of speech. Observations of growth in the legs revealed average differences of length of 2 mm and up to 3.5 cm in isolated cases. After eight year of life there was practically no further increase in the differences in length. PMID:4050042

  11. Role of protein rich maternal diet in infantile colic.

    PubMed

    Mhaske, Sunil; Mhaske, Sandeep; Badrinarayan, S; Zade, Rohan; Shirsath, Ujjwala

    2012-05-01

    Infantile colic in exclusively breastfed infant is very common. The mother in this situation gets panickyand under stress. This is very common emergency in paediatric hospital. Infantile colic is characterised by paroxysms of uncontrollable crying in an otherwise healthy and well fed infants younger than three months of age, more specifically infantile colic is defined as cry exceeding 180 minutes per 24 hours on 3 days in the week in first 3 months of life. The incidence of infantile colic is 5 to 19% in different studies. The mothers' description of this condition is that the breastfed baby who has been apparently alright in the day, frowns, his face becomes red, draws up his legs, screams, continues to cry for about 2 to 20 minutes and then attack ends suddenly. Episodes of cry are usually clustered in the late evening and early morning hours, which may cause significant disruption of family interactions. To find out the any supportive cause for infantile colic pertaining to maternal diet, we have conducted a study, where 110 crying infants were examined who happened to attend paediatric department over a period of one year. In this study it was found that more infants (50%) were in the age group >2-3 months, then >1-2 months (39.09%). Most of the patients happened to attend in casualty hours (5PM-9 AM) than in OPD hours (9 AM - 5 PM). Most cases (30.9%) took pulses in last 48 hours, followed by buffalo milk (20%). Most mothers (n=34) took pulses in diet in last 48 hours. It can be concluded that protein rich diet in one of the factor causing infantile colic. PMID:23360024

  12. Hypertrophic scars and keloids in surgery: current concepts.

    PubMed

    Song, Colin

    2014-09-01

    Hypertrophic scars and keloids remain a challenge in surgery. We appreciate that our understanding of the process at cellular and molecular level, profound as it is, when it comes to the clinical evidence much is left to be desired. Although the bench to bedside conundrum remains, the science of translational research calls for an even higher level of cooperation between the scientist and the clinician for the impetus to succeed.The clinicians alerted us to the possible theories in the pathogenesis of keloid formation, inter alia, the ischemia theory, mast cell theory, immune theory, transforming growth factor β interaction, mechanical theory, and the melanocyte stimulating hormone theory. All of the above presupposed a stimulus that would result in an uncontrolled upregulation of collagen and extracellular matrix expression in the pathogenesis of the keloid. This bedside to bench initiative, as in true science, realized more ponderables than possibilities.By the same token, research into the epidermal-mesenchymal signaling, molecular biology, genomics, and stem cell research holds much promise in the bench top arena. To assess efficacy, many scar assessment scores exist in the literature. The clinical measurement of scar maturity can aid in determining end points for therapeutics. Tissue oxygen tension and color assessment of scars by standardized photography proved to be useful.In surgery, the use of dermal substitutes holds some promise as we surmise that quality scars that arise from dermal elements, molecular and enzyme behavior, and balance. Although a systematic review shows some benefit for earlier closure and healing of wounds, no such review exists at this point in time for the use of dermal substitutes in scars.Adipose-derived stem cell, as it pertains to scars, will hopefully realize the potential of skin regeneration rather than by repair in which we are familiar with as well as the undesirable scarring as a result of healing through the inflammatory

  13. Relationship between Regional Fat Distribution and Hypertrophic Cardiomyopathy Phenotype

    PubMed Central

    Guglielmi, Valeria; Maresca, Luciano; Lanzillo, Chiara; Marinoni, Giorgia Michela; D’Adamo, Monica; Di Roma, Mauro; Preziosi, Paolo; Bellia, Alfonso; Calò, Leonardo; Sbraccia, Paolo

    2016-01-01

    Background Hypertrophic cardiomyopathy (HCM), the most common genetic heart disease, is characterized by heterogeneous phenotypic expression. Body mass index has been associated with LV mass and heart failure symptoms in HCM. The aim of our study was to investigate whether regional (trunk, appendicular, epicardial) fat distribution and extent could be related to hypertrophy severity and pattern in HCM. Methods Cardiovascular magnetic resonance was performed in 32 subjects with echocardiography-based diagnosis of HCM (22M/10F, 57.2±12.6 years) characterized by predominant hypertrophy at the interventricular septum (IVS). Regional fat distribution was assessed by dual-energy X-ray absorptiometry. Results Gender differences were detected in maximum IVS thickness (M: 18.3±3.8 mm vs. F: 14.3±4 mm, p = 0.012), right ventricle (RV) systolic function (M: 61.3±6.7%; F: 67.5±6.3%, p = 0.048), indexed RV end-diastolic (M: 64.8±16.3 ml/m2; F: 50.7±15.5 ml/m2, p = 0.04) and end-systolic volumes (M: 24.3±8.3 ml/m2; F: 16.7±7.4 ml/m2, p = 0.04). After adjusting for age and gender, maximum IVS thickness was associated with truncal fat (Tr-FAT) (β = 0.43, p = 0.02), but not with either appendicular or epicardial fat. Epicardial fat resulted independently associated with NT-proBNP levels (β = 0.63, p = 0.04). Late Gadolinium Enhancement-positive subjects displayed greater maximum IVS thickness (p = 0.02), LV mass index (p = 0.015) and NT-proBNP levels (p = 0.04), but no associations with fat amount or distribution were observed. Conclusion Truncal, but not appendicular or epicardial fat amount, seems to be related with maximum IVS thickness, the hallmark feature in our cohort of HCM patients. Further prospective researches are needed to assess a potential causative effect of central adiposity on HCM phenotype. PMID:27388274

  14. Clinical Utility of Cardiovascular Magnetic Resonance in Hypertrophic Cardiomyopathy

    PubMed Central

    2012-01-01

    Hypertrophic cardiomyopathy (HCM) is characterized by substantial genetic and phenotypic heterogeneity, leading to considerable diversity in clinical course including the most common cause of sudden death in young people and a determinant of heart failure symptoms in patients of any age. Traditionally, two-dimensional echocardiography has been the most reliable method for establishing a clinical diagnosis of HCM. However, cardiovascular magnetic resonance (CMR), with its high spatial resolution and tomographic imaging capability, has emerged as a technique particularly well suited to characterize the diverse phenotypic expression of this complex disease. For example, CMR is often superior to echocardiography for HCM diagnosis, by identifying areas of segmental hypertrophy (ie., anterolateral wall or apex) not reliably visualized by echocardiography (or underestimated in terms of extent). High-risk HCM patient subgroups identified with CMR include those with thin-walled scarred LV apical aneurysms (which prior to CMR imaging in HCM remained largely undetected), end-stage systolic dysfunction, and massive LV hypertrophy. CMR observations also suggest that the cardiomyopathic process in HCM is more diffuse than previously regarded, extending beyond the LV myocardium to include thickening of the right ventricular wall as well as substantial morphologic diversity with regard to papillary muscles and mitral valve. These findings have implications for management strategies in patients undergoing invasive septal reduction therapy. Among HCM family members, CMR has identified unique phenotypic markers of affected genetic status in the absence of LV hypertrophy including: myocardial crypts, elongated mitral valve leaflets and late gadolinium enhancement. The unique capability of contrast-enhanced CMR with late gadolinium enhancement to identify myocardial fibrosis has raised the expectation that this may represent a novel marker, which may enhance risk stratification. At

  15. Myocardial Native T1 Time in Patients With Hypertrophic Cardiomyopathy.

    PubMed

    Kato, Shingo; Nakamori, Shiro; Bellm, Steven; Jang, Jihye; Basha, Tamer; Maron, Martin; Manning, Warren J; Nezafat, Reza

    2016-10-01

    In hypertrophic cardiomyopathy (HC), there are significant variations in left ventricular (LV) wall thickness and fibrosis, which necessitates a volumetric coverage. Slice-interleaved T1 (STONE) mapping sequence allows for the assessment of native T1 time with complete coverage of LV myocardium. The aims of this study were to evaluate spatial heterogeneity of native T1 time in patients with HC. Twenty-nine patients with HC (55 ± 16 years) and 15 healthy adult control subjects (46 ± 19 years) were studied. Native T1 mapping was performed using STONE sequence which enables acquisition of 5 slices in the short-axis plane within a 90 seconds free-breathing scan. We measured LV native T1 time and maximum LV wall thickness in each 16 segments from 3 slices (basal, midventricular and apical slice). Late gadolinium enhanced (LGE) magnetic resonance imaging was acquired to assess the presence of myocardial enhancement. In patients with HC, LV native T1 time was significantly elevated compared with healthy controls, regardless of the presence or absence of LGE (mean native T1 time; LGE positive segments from HC, 1,141 ± 46 ms; LGE negative segments from HC, 1,114 ± 56 ms; segments from healthy controls, 1,065 ± 35 ms, p <0.001). Elevation of native T1 time was defined as >1,135 ms, which was +2SD of native T1 time by STONE sequence in healthy controls. A total of 120 of 405 (30%) LGE negative segments from patients with HC showed elevated native T1 time. Prevalence of segments with elevated native T1 time for basal, midventricular, and apical slice was 29%, 25%, 38%, respectively. Significant correlation was found between LV wall thickness and LV native T1 time (y = 0.029 × -22.6, p <0.001 by Spearman's correlation coefficient). In conclusion, substantial number of segments without LGE showed elevation of native T1 time, and whole-heart T1 mapping revealed heterogeneity of myocardial native T1 time in patients with HC. PMID:27567135

  16. 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

  17. Prediction of Sarcomere Mutations in Subclinical Hypertrophic Cardiomyopathy

    PubMed Central

    Captur, Gabriella; Lopes, Luis R.; Mohun, Timothy J.; Patel, Vimal; Li, Chunming; Bassett, Paul; Finocchiaro, Gherardo; Ferreira, Vanessa M.; Esteban, Maite Tome; Muthurangu, Vivek; Sherrid, Mark V.; Day, Sharlene M.; Canter, Charles E.; McKenna, William J.; Seidman, Christine E.; Bluemke, David A.; Elliott, Perry M.; Ho, Carolyn Y.; Moon, James C.

    2014-01-01

    Background Sarcomere protein mutations in hypertrophic cardiomyopathy (HCM) induce subtle cardiac structural changes prior to the development of left ventricular hypertrophy (LVH). We have proposed that myocardial crypts are part of this phenotype and independently associated with the presence of sarcomere gene mutations. We tested this hypothesis in genetic HCM pre-LVH (G+LVH−). Methods and Results A multi-centre case-control study investigated crypts and 22 other cardiovascular magnetic resonance (CMR) parameters in subclinical HCM to determine their strength of association with sarcomere gene mutation carriage. The G+LVH− sample (n=73) was 29±13 years old and 51% male. Crypts were related to the presence of sarcomere mutations (for ≥1 crypt, β=2.5, 95% confidence interval [CI] 0.5-4.4, p=0.014; for ≥2 crypts, β=3.0, 95%CI 0.8-7.9, p=0.004). In combination with 3 other parameters: anterior mitral valve leaflet (AMVL) elongation (β=2.1, 95%CI 1.7-3.1, p<0.001), abnormal LV apical trabeculae (β=1.6, 95%CI 0.8-2.5, p<0.001), and smaller LV end-systolic volumes (β=1.4, 95%CI 0.5-2.3, p=0.001), multiple crypts indicated the presence of sarcomere gene mutations with 80% accuracy and an area under the curve of 0.85 (95%CI 0.8-0.9). In this G+LVH− population cardiac myosin-binding protein C mutation carriers had twice the prevalence of crypts when compared to the other combined mutations (47 vs. 23%; odds ratio, 2.9; 95%CI 1.1–7.9; p=0.045). Conclusions The subclinical HCM phenotype measured by CMR in a multi-center environment and consisting of crypts (particularly multiple), AMVL elongation, abnormal trabeculae and smaller LV systolic cavity, is indicative of the presence of sarcomere gene mutations and highlights the need for further study. PMID:25228707

  18. 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.

  19. [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. PMID:27029877

  20. The Metabolome in Finnish Carriers of the MYBPC3-Q1061X Mutation for Hypertrophic Cardiomyopathy

    PubMed Central

    Heliö, Tiina; Jääskeläinen, Pertti; Laine, Mika; Hilvo, Mika; Nieminen, Markku S.; Laakso, Markku; Hyötyläinen, Tuulia; Orešič, Matej; Kuusisto, Johanna

    2015-01-01

    Aims Mutations in the cardiac myosin-binding protein C gene (MYBPC3) are the most common genetic cause of hypertrophic cardiomyopathy (HCM) worldwide. The molecular mechanisms leading to HCM are poorly understood. We investigated the metabolic profiles of mutation carriers with the HCM-causing MYBPC3-Q1061X mutation with and without left ventricular hypertrophy (LVH) and non-affected relatives, and the association of the metabolome to the echocardiographic parameters. Methods and Results 34 hypertrophic subjects carrying the MYBPC3-Q1061X mutation, 19 non-hypertrophic mutation carriers and 20 relatives with neither mutation nor hypertrophy were examined using comprehensive echocardiography. Plasma was analyzed for molecular lipids and polar metabolites using two metabolomics platforms. Concentrations of branched chain amino acids, triglycerides and ether phospholipids were increased in mutation carriers with hypertrophy as compared to controls and non-hypertrophic mutation carriers, and correlated with echocardiographic LVH and signs of diastolic and systolic dysfunction in subjects with the MYBPC3-Q1061X mutation. Conclusions Our study implicates the potential role of branched chain amino acids, triglycerides and ether phospholipids in HCM, as well as suggests an association of these metabolites with remodeling and dysfunction of the left ventricle. PMID:26267065

  1. An FHL1-containing complex within the cardiomyocyte sarcomere mediates hypertrophic biomechanical stress responses in mice

    PubMed Central

    Sheikh, Farah; Raskin, Anna; Chu, Pao-Hsien; Lange, Stephan; Domenighetti, Andrea A.; Zheng, Ming; Liang, Xingqun; Zhang, Tong; Yajima, Toshitaka; Gu, Yusu; Dalton, Nancy D.; Mahata, Sushil K.; Dorn, Gerald W.; Heller-Brown, Joan; Peterson, Kirk L.; Omens, Jeffrey H.; McCulloch, Andrew D.; Chen, Ju

    2008-01-01

    The response of cardiomyocytes to biomechanical stress can determine the pathophysiology of hypertrophic cardiac disease, and targeting the pathways regulating these responses is a therapeutic goal. However, little is known about how biomechanical stress is sensed by the cardiomyocyte sarcomere to transduce intracellular hypertrophic signals or how the dysfunction of these pathways may lead to disease. Here, we found that four-and-a-half LIM domains 1 (FHL1) is part of a complex within the cardiomyocyte sarcomere that senses the biomechanical stress–induced responses important for cardiac hypertrophy. Mice lacking Fhl1 displayed a blunted hypertrophic response and a beneficial functional response to pressure overload induced by transverse aortic constriction. A link to the Gαq (Gq) signaling pathway was also observed, as Fhl1 deficiency prevented the cardiomyopathy observed in Gq transgenic mice. Mechanistic studies demonstrated that FHL1 plays an important role in the mechanism of pathological hypertrophy by sensing biomechanical stress responses via the N2B stretch sensor domain of titin and initiating changes in the titin- and MAPK-mediated responses important for sarcomere extensibility and intracellular signaling. These studies shed light on the physiological regulation of the sarcomere in response to hypertrophic stress. PMID:19033658

  2. Altering the Architecture of Tissue Engineered Hypertrophic Cartilaginous Grafts Facilitates Vascularisation and Accelerates Mineralisation

    PubMed Central

    Sheehy, Eamon J.; Vinardell, Tatiana; Toner, Mary E.; Buckley, Conor T.; Kelly, Daniel J.

    2014-01-01

    Cartilaginous tissues engineered using mesenchymal stem cells (MSCs) can be leveraged to generate bone in vivo by executing an endochondral program, leading to increased interest in the use of such hypertrophic grafts for the regeneration of osseous defects. During normal skeletogenesis, canals within the developing hypertrophic cartilage play a key role in facilitating endochondral ossification. Inspired by this developmental feature, the objective of this study was to promote endochondral ossification of an engineered cartilaginous construct through modification of scaffold architecture. Our hypothesis was that the introduction of channels into MSC-seeded hydrogels would firstly facilitate the in vitro development of scaled-up hypertrophic cartilaginous tissues, and secondly would accelerate vascularisation and mineralisation of the graft in vivo. MSCs were encapsulated into hydrogels containing either an array of micro-channels, or into non-channelled ‘solid’ controls, and maintained in culture conditions known to promote a hypertrophic cartilaginous phenotype. Solid constructs accumulated significantly more sGAG and collagen in vitro, while channelled constructs accumulated significantly more calcium. In vivo, the channels acted as conduits for vascularisation and accelerated mineralisation of the engineered graft. Cartilaginous tissue within the channels underwent endochondral ossification, producing lamellar bone surrounding a hematopoietic marrow component. This study highlights the potential of utilising engineering methodologies, inspired by developmental skeletal processes, in order to enhance endochondral bone regeneration strategies. PMID:24595316

  3. [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.

  4. 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

  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. Mid-ventricular obstructive hypertrophic cardiomyopathy with an apical aneurysm caused by vasospastic angina.

    PubMed

    Kiyooka, Takahiko; Satoh, Yasuhiro

    2014-03-20

    Mid-ventricular obstructive hypertrophic cardiomyopathy (MVOHCM) is a rare form of cardiomyopathy, characterized by the presence of a pressure gradient between the left ventricular basal and apical chambers and is frequently associated with an apical aneurysm. However, the exact cause of this aneurysm remains unknown. We here describe a patient with MVOHCM in whom the apical aneurysm may be caused by vasospastic angina.

  7. Hair-thread tourniquet syndrome of the hypertrophic clitoris in a 6-year-old girl.

    PubMed

    Parlak, Mesut; Karakaya, Ali Erdal

    2015-05-01

    Hair-thread tourniquet syndrome is defined as the ischemic strangulation of hair resulting in edema and severe pain and may cause amputation of organs. Strangulation of the external genitalia (clitoris, labia minora) has rarely been described in girls. Here, we present a case of hypertrophic clitoris injury secondary to hair strangulation in a 6-year-old girl.

  8. Missense mutation of the {beta}-cardiac myosin heavy-chain gene in hypertrophic cardiomyopathy

    SciTech Connect

    Arai, Shoichi; Matsuoka, Rumiko; Hirayama, Kenji; Sakurai, Hisanao

    1995-09-11

    Hypertrophic cardiomyopathy occurs as an autosomal dominant familial disorder or as a sporadic disease without familial involvement. We describe a missense mutation of the {beta}-cardiac myosin heavy chain (MHC) gene, a G to T transversion (741 Gly{r_arrow}Trp) identified by direct sequencing of exon 20 in four individuals affected with familial hypertrophic cardiomyopathy. Three individuals with sporadic hypertrophic cardiomyopathy, whose parents are clinically and genetically unaffected, had sequence variations of exon 34 of the {alpha}-cardiac MHC gene (a C to T transversion, 1658 Asp{r_arrow}Asp, resulting in FokI site polymorphism), of intron 33 of the {alpha}-cardiac MHC gene (a G to A and an A to T transversion), and also of intron 14 of the {beta}-cardiac MHC gene (a C to T transversion in a patient with Noonan syndrome). Including our case, 30 missense mutations of the {beta}-cardiac MHC gene in 49 families have been reported thus far worldwide. Almost all are located in the region of the gene coding for the globular head of the molecule, and only one mutation was found in both Caucasian and Japanese families. Missense mutations of the {Beta}-cardiac MHC gene in hypertrophic cardiomyopathy may therefore differ according to race. 29 refs., 6 figs., 3 tabs.

  9. The genetic landscape of infantile spasms.

    PubMed

    Michaud, Jacques L; Lachance, Mathieu; Hamdan, Fadi F; Carmant, Lionel; Lortie, Anne; Diadori, Paola; Major, Philippe; Meijer, Inge A; Lemyre, Emmanuelle; Cossette, Patrick; Mefford, Heather C; Rouleau, Guy A; Rossignol, Elsa

    2014-09-15

    Infantile spasms (IS) is an early-onset epileptic encephalopathy of unknown etiology in ∼40% of patients. We hypothesized that unexplained IS cases represent a large collection of rare single-gene disorders. We investigated 44 children with unexplained IS using comparative genomic hybridisation arrays (aCGH) (n = 44) followed by targeted sequencing of 35 known epilepsy genes (n = 8) or whole-exome sequencing (WES) of familial trios (n = 18) to search for rare inherited or de novo mutations. aCGH analysis revealed de novo variants in 7% of patients (n = 3/44), including a distal 16p11.2 duplication, a 15q11.1q13.1 tetrasomy and a 2q21.3-q22.2 deletion. Furthermore, it identified a pathogenic maternally inherited Xp11.2 duplication. Targeted sequencing was informative for ARX (n = 1/14) and STXBP1 (n = 1/8). In contrast, sequencing of a panel of 35 known epileptic encephalopathy genes (n = 8) did not identify further mutations. Finally, WES (n = 18) was very informative, with an excess of de novo mutations identified in genes predicted to be involved in neurodevelopmental processes and/or known to be intolerant to functional variations. Several pathogenic mutations were identified, including de novo mutations in STXBP1, CASK and ALG13, as well as recessive mutations in PNPO and ADSL, together explaining 28% of cases (5/18). In addition, WES identified 1-3 de novo variants in 64% of remaining probands, pointing to several interesting candidate genes. Our results indicate that IS are genetically heterogeneous with a major contribution of de novo mutations and that WES is significantly superior to targeted re-sequencing in identifying detrimental genetic variants involved in IS. PMID:24781210

  10. Oral atenolol therapy for proliferating infantile hemangioma

    PubMed Central

    Ji, Yi; Wang, Qi; Chen, Siyuan; Xiang, Bo; Xu, Zhicheng; Li, Yuan; Zhong, Lin; Jiang, Xiaoping; Yang, Xiaodong

    2016-01-01

    Abstract Propranolol, a lipophilic nonselective β-blocker, has recently been reported to be the treatment of choice for select types of infantile hemangiomas (IHs). Atenolol is a hydrophilic, selective β1-blocker and therefore may be not associated with side effects attributable to β2-adrenergic receptor blockade and lipophilicity. However, the efficacy and safety of atenolol in the treatment of IH are poorly understood. The aim of this study was to evaluate the efficacy and safety of atenolol in the treatment of proliferating IHs. A study of 76 infants between the ages of 5 to 20 weeks with superficial or mixed IH was conducted between August 2013 and March 2015. Oral atenolol was administered in a progressive schedule to 1 mg/kg per day in a single dose. Efficacy was assessed using the Hemangioma Activity Score (HAS) at weeks 0, 1, 4, 12, and 24. Safety was evaluated at weeks 0, 1, 4, 8, 12, 16, 20, and 24. In total, 70 patients completed 24 weeks of treatment. IH growth abruptly stopped for 93.4% of patients within the fourth week of treatment with atenolol. In ulcerated IHs, complete healing of the ulcerations occurred in an average treatment time of 5.5 weeks. Atenolol treatment promoted dramatic decreases in HAS scores after week 1. An “excellent” treatment response (compete or nearly complete resolution of the IH) was observed in 56.5% of patients at week 24. No significant hypoglycemia, bronchospasm, bradycardia, or hypotension occurred. The most common adverse event was diarrhea, followed by agitation and sleep disturbance. This study demonstrated that atenolol was effective and safe at a dose of 1 mg/kg per day for 24 weeks in the treatment of proliferating IHs. PMID:27310994

  11. 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

  12. [Obstruction of the right ventricular outflow tract on the obstructive hypertrophic cardiomyopathy. Case report and literature review].

    PubMed

    Soriano, Patricia Pérez; Estrada, Catalina Lomelí; Peralta, Martin Rosas; Negrete, J Antonio Lorenzo; González, Celso Mendoza; Ortiz, Arturo Méndez; Attié, Fause

    2008-01-01

    OHC is a disorder with a broad spectrum of morphological, functional and genetics abnormalities. The Obstruction on the Right Ventricular Outflow (OHCRV) is not expected most of the time, that's way it is not usually detected and rarely mentioned in the cardiological literature. Its clinical presentation may include basically systemic venous hypertension symptoms that come with the hypertrophic cardyomiopathy manifestations. The manifestations of an apparent Right Ventricular Hypertrophic (RVH) in the ECG are probably due to the huge septal vector that activates the septum with a major thickness. The clinical confirmation of the obstruction on the OHCRV produced by a considerable asymmetric septal hypertrophic is easily shown with bidimensional an Doppler echocardiography.

  13. Dual pathways to endochondral osteoblasts: a novel chondrocyte-derived osteoprogenitor cell identified in hypertrophic cartilage

    PubMed Central

    Park, Jung; Gebhardt, Matthias; Golovchenko, Svitlana; Perez-Branguli, Francesc; Hattori, Takako; Hartmann, Christine; Zhou, Xin; deCrombrugghe, Benoit; Stock, Michael; Schneider, Holm; von der Mark, Klaus

    2015-01-01

    According to the general understanding, the chondrocyte lineage terminates with the elimination of late hypertrophic cells by apoptosis in the growth plate. However, recent cell tracking studies have shown that murine hypertrophic chondrocytes can survive beyond “terminal” differentiation and give rise to a progeny of osteoblasts participating in endochondral bone formation. The question how chondrocytes convert into osteoblasts, however, remained open. Following the cell fate of hypertrophic chondrocytes by genetic lineage tracing using BACCol10;Cre induced YFP-reporter gene expression we show that a progeny of Col10Cre-reporter labelled osteoprogenitor cells and osteoblasts appears in the primary spongiosa and participates – depending on the developmental stage – substantially in trabecular, endosteal, and cortical bone formation. YFP+ trabecular and endosteal cells isolated by FACS expressed Col1a1, osteocalcin and runx2, thus confirming their osteogenic phenotype. In searching for transitory cells between hypertrophic chondrocytes and trabecular osteoblasts we identified by confocal microscopy a novel, small YFP+Osx+ cell type with mitotic activity in the lower hypertrophic zone at the chondro-osseous junction. When isolated from growth plates by fractional enzymatic digestion, these cells termed CDOP (chondrocyte-derived osteoprogenitor) cells expressed bone typical genes and differentiated into osteoblasts in vitro. We propose the Col10Cre-labeled CDOP cells mark the initiation point of a second pathway giving rise to endochondral osteoblasts, alternative to perichondrium derived osteoprogenitor cells. These findings add to current concepts of chondrocyte-osteocyte lineages and give new insight into the complex cartilage-bone transition process in the growth plate. PMID:25882555

  14. A New 4D Trajectory-Based Approach Unveils Abnormal LV Revolution Dynamics in Hypertrophic Cardiomyopathy

    PubMed Central

    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

  15. 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

  16. 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.

  17. miR-182 Modulates Myocardial Hypertrophic Response Induced by Angiogenesis in Heart

    PubMed Central

    Li, Na; Hwangbo, Cheol; Jaba, Irina M.; Zhang, Jiasheng; Papangeli, Irinna; Han, Jinah; Mikush, Nicole; Larrivée, Bruno; Eichmann, Anne; Chun, Hyung J.; Young, Lawrence H.; Tirziu, Daniela

    2016-01-01

    Myocardial hypertrophy is an adaptive response to hemodynamic demands. Although angiogenesis is critical to support the increase in heart mass with matching blood supply, it may also promote a hypertrophic response. Previously, we showed that cardiac angiogenesis induced by placental growth factor (PlGF), promotes myocardial hypertrophy through the paracrine action of endothelium-derived NO, which triggers the degradation of regulator of G protein signaling 4 (RGS4) to activate the Akt/mTORC1 pathways in cardiomyocytes. Here, we investigated whether miRNAs contribute to the development of hypertrophic response associated with myocardial angiogenesis. We show that miR-182 is upregulated concurrently with the development of hypertrophy in PlGF mice, but not when hypertrophy was blocked by concomitant expression of PlGF and RGS4, or by PlGF expression in eNOS−/− mice. Anti-miR-182 treatment inhibits the hypertrophic response and prevents the Akt/mTORC1 activation in PlGF mice and NO-treated cardiomyocytes. miR-182 reduces the expression of Bcat2, Foxo3 and Adcy6 to regulate the hypertrophic response in PlGF mice. Particularly, depletion of Bcat2, identified as a new miR-182 target, promotes AktSer473/p70-S6KThr389 phosphorylation and cardiomyocyte hypertrophy. LV pressure overload did not upregulate miR-182. Thus, miR-182 is a novel target of endothelial-cardiomyocyte crosstalk and plays an important role in the angiogenesis induced-hypertrophic response. PMID:26888314

  18. miR-182 Modulates Myocardial Hypertrophic Response Induced by Angiogenesis in Heart.

    PubMed

    Li, Na; Hwangbo, Cheol; Jaba, Irina M; Zhang, Jiasheng; Papangeli, Irinna; Han, Jinah; Mikush, Nicole; Larrivée, Bruno; Eichmann, Anne; Chun, Hyung J; Young, Lawrence H; Tirziu, Daniela

    2016-01-01

    Myocardial hypertrophy is an adaptive response to hemodynamic demands. Although angiogenesis is critical to support the increase in heart mass with matching blood supply, it may also promote a hypertrophic response. Previously, we showed that cardiac angiogenesis induced by placental growth factor (PlGF), promotes myocardial hypertrophy through the paracrine action of endothelium-derived NO, which triggers the degradation of regulator of G protein signaling 4 (RGS4) to activate the Akt/mTORC1 pathways in cardiomyocytes. Here, we investigated whether miRNAs contribute to the development of hypertrophic response associated with myocardial angiogenesis. We show that miR-182 is upregulated concurrently with the development of hypertrophy in PlGF mice, but not when hypertrophy was blocked by concomitant expression of PlGF and RGS4, or by PlGF expression in eNOS(-/-) mice. Anti-miR-182 treatment inhibits the hypertrophic response and prevents the Akt/mTORC1 activation in PlGF mice and NO-treated cardiomyocytes. miR-182 reduces the expression of Bcat2, Foxo3 and Adcy6 to regulate the hypertrophic response in PlGF mice. Particularly, depletion of Bcat2, identified as a new miR-182 target, promotes Akt(Ser473)/p70-S6K(Thr389) phosphorylation and cardiomyocyte hypertrophy. LV pressure overload did not upregulate miR-182. Thus, miR-182 is a novel target of endothelial-cardiomyocyte crosstalk and plays an important role in the angiogenesis induced-hypertrophic response. PMID:26888314

  19. 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…

  20. 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…

  1. Molecular genetics of infantile-onset retinal dystrophies.

    PubMed

    Moradi, P; Moore, A T

    2007-10-01

    Over the last decade there have been major advances in our understanding of the molecular pathology of inherited retinal dystrophies. This paper reviews recent advances in the identification of genetic mutations underlying infantile-onset inherited retinal disorders and considers how this knowledge may lead to novel therapeutic approaches.

  2. Conservative treatment of infantile subglottic hemangioma with corticosteroids.

    PubMed

    Kveton, J F; Pillsbury, H C

    1982-02-01

    Infantile subglottic hemangioma is a rare, potentially fatal cause of airway obstruction. Diagnosis is made by history, neck roentgenograms, and direct laryngoscopy. A regimen of high-dose intravenous steroids in combination with oxygen and a mist tent is the preferred mode of therapy in cases where tracheostomy is not required. PMID:7059313

  3. Molecular genetics of infantile-onset retinal dystrophies.

    PubMed

    Moradi, P; Moore, A T

    2007-10-01

    Over the last decade there have been major advances in our understanding of the molecular pathology of inherited retinal dystrophies. This paper reviews recent advances in the identification of genetic mutations underlying infantile-onset inherited retinal disorders and considers how this knowledge may lead to novel therapeutic approaches. PMID:17914438

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

    PubMed

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

    2016-09-01

    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 the expression switch of the NMDA receptor subunits from 2B to 2A, which is dependent on brain-derived neurotrophic factor (BDNF) and metabotropic glutamate receptor 5 (mGluR5). Activating BDNF or mGluR5 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

  5. The Organic Etiology of Infantile Autism: Myth or Fact?

    ERIC Educational Resources Information Center

    Sanua, Victor D.

    The author reviews theories and research on the etiology of infantile autism, specifically regarding its organic basis. He cites controversies over its organic vs. environmental basis and over the family's impact on autism. Quotes from such theoriests as L. Kanner, B. Bettleheim, and B. Rimland are presented along with E. R. Ritvo and M. Coleman.…

  6. Improving Outcomes in Infantile Spasms: Role of Pharmacotherapy.

    PubMed

    Iyer, Anand; Appleton, Richard

    2016-10-01

    Infantile spasms, and specifically within the context of West syndrome , is one of the most common epileptic encephalopathies to occur in early infancy. Early recognition and treatment can improve neurodevelopmental outcome in some cases, although the underlying aetiology is probably the most important prognostic factor in both spasm suppression and developmental outcome. Corticosteroids, either adrenocorticotrophic hormone (ACTH) or prednisolone, and vigabatrin are currently the preferred first-line treatment options. Vigabatrin is the treatment of choice when the underlying cause is tuberous sclerosis complex (TSC). Emerging evidence suggests that a combination of steroid and vigabatrin may be more effective in the suppression of spasms and resolution of hypsarrhythmia, the electro-encephalographic signal of spasms. Several other anti-epileptic drugs (AEDs) (levetiracetam, nitrazepam, sodium valproate, topiramate, zonisamide) are usually used as add-on or adjunctive treatment in refractory cases. Pyridoxine (or pyridoxal phosphate) and the ketogenic diet are established treatment options in refractory cases. There is some evidence that neuro-active steroids, including ganaxolone, may be effective; however, clinical trials undertaken intermittently for over a decade have yet to prove their efficacy, not only for the suppression of infantile spasms but also for the resolution of hypsarrhythmia, which may be as important as seizure control in developmental outcome in these children. Insights into developing novel treatment options have emerged from rodent models of infantile spasms, and research is continuing into the efficacy of rapamycin in improving outcomes in infantile spasms. This review provides a brief overview of the existing scientific literature around treatment options and outlines emerging newer treatment options in infantile spasms. PMID:27541933

  7. Echocardiography Differences Between Athlete’s Heart Hearth and Hypertrophic Cardiomyopathy

    PubMed Central

    Kreso, Amir; Barakovic, Fahir; Medjedovic, Senad; Halilbasic, Amila; Klepic, Muhamed

    2015-01-01

    Introduction: Among long term athletes there is always present hypertrophy of the left ventricle walls as well as increased cardiac mass. These changes are the result of the heart muscle adaptation to load during the years of training, which should not be considered as pathology. In people suffering from hypertrophic cardiomyopathy (HCM), there is also present hypertrophy of the left ventricle walls and increased mass of the heart, but these changes are the result of pathological changes in the heart caused by a genetic predisposition for the development HCM of. Differences between myocardial hypertrophy in athletes and HCM are not clearly differentiated and there are always dilemmas between pathological and physiological hypertrophy. The goal of the study is to determine and compare the echocardiographic cardiac parameters of longtime athletes to patients with hypertrophic cardiomyopathy. Material and methods: The study included 60 subjects divided into two groups: active athletes and people with hypertrophic cardiomyopathy. Results: Mean values of IVSd recorded in GB is IVSd=17.5 mm (n=20, 95% CI, 16.00–19.00 mm), while a significantly smaller mean value is recorded in GA, IVSd=10.0 mm (n=40, 95% CI, 9.00-11.00 mm). The mean value of the left ventricle in diastole (LVDd) recorded in the GA is LVDd=51 mm (n=40; 95% CI, 48.00 to 52.00 mm), while in the group with hypertrophic cardiomyopathy (GB) mean LVDd value is 42 mm (n=20; 95% CI, 40.00 to 48.00 mm). The mean value of the rear wall of the left ventricle (LVPWd) recorded in the GA is LVDd=10 mm (n=40; 95% CI, 9.00-10.00 mm) while in the group with hypertrophic cardiomyopathy (GB) mean LVDd is 14 mm (n=20; 95% CI, 12.00 to 16.00 mm). The mean of the left ventricle during systole (LVSD) observed in GA is LVSD=34 mm (n=40; 95% CI, 32.00 to 36.00 mm), while in the group with hypertrophic cardiomyopathy (GB) mean LVSD is 28 mm (n=20; 95% CI, 24.00 to 28.83 mm). The mean ejection fraction (EF%) observed in GA is EF

  8. 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…

  9. Is surgery the gold standard in the treatment of obstructive hypertrophic cardiomyopathy?

    PubMed Central

    Knyshov, Gennady; Lazoryshynets, Vasyl; Rudenko, Kostyantyn; Kravchuk, Borys; Beshlyaga, Vyacheslav; Zalevsky, Valery; Rasputnyak, Olga; Batsak, Bogdan

    2013-01-01

    OBJECTIVES Hypertrophic cardiomyopathy is a complex and relatively common genetic cardiac disease and has been the subject of intensive scrutiny and investigation for over 40 years. The aim of this non-randomized cohort study was to compare subjective and objective outcomes in hypertrophic cardiomyopathy patients undergoing drug therapy, surgical myotomy-myectomy, dual-chamber pacing and alcohol septal ablation. METHODS We examined 194 patients: 103 with non-obstructive hypertrophic cardiomyopathy and 91 with obstructive hypertrophic cardiomyopathy. All the patients with a non-obstructive form were on drug therapy. Ninety-one consecutive patients with drug-refractory obstructive hypertrophic cardiomyopathy were treated invasively. Dual-chamber pacemaker implantation was performed for 49 patients with previous positive temporary pacing test (Group 1). In 28 patients with massive left ventricle hypertrophy and obliteration of its cavities, extensive myotomy-myectomy was performed (Group 2). In 14 patients with midventricular obstruction and appropriate coronary anatomy, alcohol septal ablation was performed (Group 3). RESULTS The peak left ventricle outflow tract gradient was 84.1 ± 15.2 mmHg in Group 1, 113.3 ± 14.9 mmHg in Group 2 and 97.5 ± 8.9 mmHg in Group 3. Dual-chamber pacing in Group 1 with optimal atrio-ventricular delay (85–180 ms for atrium pacing and 45–120 ms for atrial sensing) leads to dramatic decreases in left ventricle outflow tract gradient to 17.6 ± 11.8 mmHg and degree of mitral regurgitation. After extensive myectomy in Group 2, we observed a reduction of left ventricle outflow tract gradient to 17.3 ± 10.2 mmHg. Septal alcohol ablation in Group 3 leads to a left ventricle outflow tract gradient decrease from 97.5 ± 8.9 to 25.3 ± 5.8 mmHg. CONCLUSIONS Surgical myectomy, dual-chamber pacing and alcohol septal ablation are equally effective in reducing obstruction in case of correct indications. Dual-chamber pacing is indicated in

  10. Biological and Chemical Removal of Primary Cilia Affects Mechanical Activation of Chondrogenesis Markers in Chondroprogenitors and Hypertrophic Chondrocytes

    PubMed Central

    Deren, Matthew E.; Yang, Xu; Guan, Yingjie; Chen, Qian

    2016-01-01

    Chondroprogenitors and hypertrophic chondrocytes, which are the first and last stages of the chondrocyte differentiation process, respectively, are sensitive to mechanical signals. We hypothesize that the mechanical sensitivity of these cells depends on the cell surface primary cilia. To test this hypothesis, we removed the primary cilia by biological means with transfection with intraflagellar transport protein 88 (IFT88) siRNA or by chemical means with chloral hydrate treatment. Transfection of IFT88 siRNA significantly reduced the percentage of ciliated cells in both chondroprogenitor ATDC5 cells as well as primary hypertrophic chondrocytes. Cyclic loading (1 Hz, 10% matrix deformation) of ATDC5 cells in three-dimensional (3D) culture stimulates the mRNA levels of chondrogenesis marker Type II collagen (Col II), hypertrophic chondrocyte marker Type X collagen (Col X), and a molecular regulator of chondrogenesis and chondrocyte hypertrophy bone morphogenetic protein 2 (BMP-2). The reduction of ciliated chondroprogenitors abolishes mechanical stimulation of Col II, Col X, and BMP-2. In contrast, cyclic loading stimulates Col X mRNA levels in hypertrophic chondrocytes, but not those of Col II and BMP-2. Both biological and chemical reduction of ciliated hypertrophic chondrocytes reduced but failed to abolish mechanical stimulation of Col X mRNA levels. Thus, primary cilia play a major role in mechanical stimulation of chondrogenesis and chondrocyte hypertrophy in chondroprogenitor cells and at least a partial role in hypertrophic chondrocytes. PMID:26861287

  11. 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.

  12. 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.

  13. 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

  14. 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.

  15. [Non-pharmacological treatment of hypertrophic obstructive cardiomyopathy guided by echocardiography].

    PubMed

    La Canna, Giovanni; Montorfano, Matteo; Ficarra, Eleonora; Michev, Iassen; Capritti, Elvia; Grimaldi, Antonio; De Cobelli, Francesco; Verzini, Alessandro; Colombo, Antonio; Alfieri, Ottavio

    2006-03-01

    As a relevant cause of symptoms and adverse clinical prognosis, left ventricular obstruction should be regarded as an important therapeutic target in patients with hypertrophic obstructive cardiomyopathy. The surgical approach (including septal myectomy or mitral valve surgery) and percutaneous transluminal septal myocardial ablation offer a non-pharmacological option for the treatment of symptomatic left ventricular obstruction and symptoms unresponsive to medical treatment. The surgical approach is established as an effective strategy for relieving symptoms from dynamic obstruction. Percutaneous septal ablation, on the other hand, has only recently been introduced into clinical practice and, despite its efficacy as an obstructive abolisher, little is known about the prognostic long-term impact of procedural-induced myocardial damage. Due to its accuracy and diagnostic versatility, including intraprocedural use, Doppler echocardiography provides essential information for the planning and monitoring of non-pharmacological therapy in patients with hypertrophic obstructive cardiomyopathy.

  16. 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

  17. 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.

  18. 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.

  19. 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

  20. 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. PMID:24808788

  1. [Amelioration of secondary hypertrophic osteoarthropathy following tumor resection in a patient with primary lung cancer].

    PubMed

    Akizuki, M; Homma, M

    1991-06-01

    A 41 year-old female presented with swelling of lower extremities and polyarthralgia involving both knee joints. Physical examination revealed presence of finger clubbing, tenderness and pain-on-motion in knee and foot joints. A chest X-ray film showed a solitary tumor in the right mid-lung field. There were subperiosteal new bone formation and radioisotope accumulation in the legs bilaterally. The clubbing, periostitis and arthritis confirmed a diagnosis of hypertrophic osteoarthropathy. Adenocarcinoma was the biopsy diagnosis of the lung tumor. The characteristic features of hypertrophic osteoarthropathy resolved after surgical resection of the pulmonary lesion followed by chemotherapy. This case demonstrates a typical example of identification of a treatable malignant condition by rheumatic symptoms.

  2. 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.

  3. Microvascular Permeability Changes Might Explain Cardiac Tamponade after Alcohol Septal Ablation for Hypertrophic Cardiomyopathy

    PubMed Central

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

    2014-01-01

    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. PMID:24808788

  4. 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

  5. Intrauterine Treatment of a Fetus with Familial Hypertrophic Cardiomyopathy Secondary to MYH7 Mutation.

    PubMed

    Hill, Meghan G; Sekhon, Mehtab K; Reed, Kathryn L; Anderson, Caroline F; Borjon, Nydia D; Tardiff, Jil C; Barber, Brent J

    2015-12-01

    There is no clear consensus on optimal management of fetuses affected by familial hypertrophic cardiomyopathy (HCM). Intrauterine treatment of the condition has not been attempted in any standardized fashion. We report the case of a fetus treated by maternal propranolol during the third trimester after septal hypertrophy and diastolic dysfunction was diagnosed on fetal echocardiogram. The pregnancy went successfully to term, and fetal septal hypertrophy was noted to improve prior to delivery. PMID:26337809

  6. Coronary artery ectasia and systolic flow cessation in a patient with hypertrophic cardiomyopathy: a case report.

    PubMed

    Zografos, Theodoros; Kokladi, Maria; Katritsis, Demosthenes

    2010-12-01

    Coronary artery ectasia (CAE) is characterized by diffuse or localized inappropriate dilation of coronary arteries and is often associated with slow coronary blood flow. Although CAE has been described to coexist with several clinical entities there are only three reports of CAE in the presence of hypertrophic cardiomyopathy (HCM). We report a case of CAE and slow coronary flow with systolic flow cessation in a 61-year old male with coronary artery disease and HCM.

  7. Health related quality of life and psychological wellbeing in patients with hypertrophic cardiomyopathy.

    PubMed Central

    Cox, S.; O'Donoghue, A. C.; McKenna, W. J.; Steptoe, A.

    1997-01-01

    OBJECTIVE: To assess the health related quality of life and psychological wellbeing of patients with hypertrophic cardiomyopathy, to correlate these with symptoms, clinical, and psychosocial factors. DESIGN: Questionnaire distributed to 171 hypertrophic cardiomyopathy patients aged at least 14 years, selected at random from a dataset of 480 patients. Assessments included the Short Form 36 (SF-36) Health Survey, the Hospital Anxiety and Depression questionnaire, and measures of adjustment, worry, and patient satisfaction. RESULTS: There was an 80.1% response rate to the questionnaire. Patients had severe limitations in all eight dimensions of quality of life assessed by the SF-36: physical functioning, role limitations owing to physical problems, role limitations owing to emotional problems, social functioning, mental health, general health perceptions, vitality, and bodily pain. Levels of anxiety and depression were also high compared with population norms. Quality of life was particularly impaired in patients with chest pain and dyspnoea, but was less consistently related to clinical cardiological measures. Adjustment to the condition and patient satisfaction were generally good. In multivariate analysis, quality of life was associated with a combination of symptom patterns and psychosocial factors. No differences in quality of life, anxiety or depression were observed between patients with no known family history, those with familial cardiomyopathy, and patients with a family history of premature sudden death. CONCLUSIONS: Hypertrophic cardiomyopathy is associated with substantial restrictions in health related quality of life. Symptoms, adjustment, and quality of interactions with clinical staff contribute to these limitations. Recognition of the problems confronted by patients with hypertrophic cardiomyopathy requires continued efforts at education both of the public and health professionals. PMID:9326995

  8. 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

  9. Role of endocardial septal ablation in the treatment of hypertrophic obstructive cardiomyopathy.

    PubMed

    Aksu, Tolga; Güler, Tümer Erdem; Yalın, Kıvanç; Gölcük, Şükriye Ebru; Özcan, Kazım Serhan

    2016-09-01

    Septal reduction therapy is accepted as a first therapeutic option for symptomatic drug-resistant hypertrophic obstructive cardiomyopathy (HOCM). Although, surgical septal myectomy is the gold standard method, alcohol septal ablation is a well-studied alternative approach in the patients with suitable anatomy. Endocardial septal ablation (ESA) therapy was relatively new defined modality and outcomes of the procedure were not clearly elucidated yet. We aimed to review the clinical aspects of ESA procedure and provide some historical background. PMID:27609434

  10. 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

  11. [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. PMID:27491238

  12. [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.

  13. Dilated cardiomyopathy and impaired cardiac hypertrophic response to angiotensin II in mice lacking FGF-2

    PubMed Central

    Pellieux, Corinne; Foletti, Alessandro; Peduto, Giovanni; Aubert, Jean-François; Nussberger, Jürg; Beermann, Friedrich; Brunner, Hans-R.; Pedrazzini, Thierry

    2001-01-01

    FGF-2 has been implicated in the cardiac response to hypertrophic stimuli. Angiotensin II (Ang II) contributes to maintain elevated blood pressure in hypertensive individuals and exerts direct trophic effects on cardiac cells. However, the role of FGF-2 in Ang II–induced cardiac hypertrophy has not been established. Therefore, mice deficient in FGF-2 expression were studied using a model of Ang II–dependent hypertension and cardiac hypertrophy. Echocardiographic measurements show the presence of dilated cardiomyopathy in normotensive mice lacking FGF-2. Moreover, hypertensive mice without FGF-2 developed no compensatory cardiac hypertrophy. In wild-type mice, hypertrophy was associated with a stimulation of the c-Jun N-terminal kinase, the extracellular signal regulated kinase, and the p38 kinase pathways. In contrast, mitogen-activated protein kinase (MAPK) activation was markedly attenuated in FGF-2–deficient mice. In vitro, FGF-2 of fibroblast origin was demonstrated to be essential in the paracrine stimulation of MAPK activation in cardiomyocytes. Indeed, fibroblasts lacking FGF-2 expression have a defective capacity for releasing growth factors to induce hypertrophic responses in cardiomyocytes. Therefore, these results identify the cardiac fibroblast population as a primary integrator of hypertrophic stimuli in the heart, and suggest that FGF-2 is a crucial mediator of cardiac hypertrophy via autocrine/paracrine actions on cardiac cells. PMID:11748268

  14. Osteogenic differentiation of hypertrophic chondrocytes involves asymmetric cell divisions and apoptosis

    PubMed Central

    1995-01-01

    We have investigated the early cellular events that take place during the change in lineage commitment from hypertrophic chondrocytes to osteoblast-like cells. We have induced this osteogenic differentiation by cutting through the hypertrophic cartilage of embryonic chick femurs and culturing the explants. Immunocytochemical characterization, [3H]thymidine pulse-chase labeling, in situ nick translation or end labeling of DNA breaks were combined with ultrastructural studies to characterize the changing pattern of differentiation. The first responses to the cutting, seen after 2 d, were upregulation of alkaline phosphatase activity, synthesis of type I collagen and single-stranded DNA breaks, probably indicating a metastable state. Associated with the change from chondrogenic to osteogenic commitment was an asymmetric cell division with diverging fates of the two daughter cells, where one daughter cell remained viable and the other one died. The available evidence suggests that the viable daughter cell then divided and generated osteogenic cells, while the other daughter cell died by apoptosis. The results suggest a new concept of how changes in lineage commitment of differentiated cells may occur. The concepts also reconcile previously opposing views of the fate of the hypertrophic chondrocyte. PMID:7593173

  15. Cone of skin exists in rat: A "hypertrophic scarring free" animal.

    PubMed

    Zuo, Yanhai; Yu, Xiaoping; Lu, Shuliang

    2016-08-01

    Cone of skin is deemed to be related to hypertrophic scarring and absent in such traditionally "hypertrophic scarring and keloid free" animals as rat. The purpose of our study is to determine whether the cone of skin exists in rat. If it was, why it was ignored, and what was the meaning of it. The depilation of left dorsum of 32 male Sprague-Dawley rats was performed using a wax/rosin mixture. Skin samples were harvested on 0 d, 3 d, 9 d, 15 d, 21 d, 27 d, 33 d, and 39 d after depilation and stained by hematoxylin and eosin methods. Light microscopic observation of the dermis-fat interface was studied at 25× magnification. It was observed that, "dome" like fat tissue bulged up into the dermis from 3 d to 27 d and hair follicle bulged down into the "dome" like fat tissue from 15 d to 27 d and a "cone" like structure was seen. Cone of skin exists in rat in certain stages of hair follicle cycle, which is a valuable addition to the scientific literature and might be a challenge to the relation between cone of skin and hypertrophic scarring. Anat Rec, 299:1140-1144, 2016. © 2016 Wiley Periodicals, Inc. PMID:27125905

  16. Astragaloside IV attenuates apoptosis of hypertrophic cardiomyocyte through inhibiting oxidative stress and calpain-1 activation.

    PubMed

    Mei, Meng; Tang, Futian; Lu, Meili; He, Xin; Wang, Hongxin; Hou, Xuwei; Hu, Jin; Xu, Chonghua; Han, Ronghui

    2015-11-01

    Calpain-1 activation and oxidative stress are two critical factors contributing to apoptosis of hypertrophic cardiomyocyte. Astragaloside IV (ASIV) exhibits protective effect against various heart diseases. The present study was designed to investigate whether the inhibitory effect of ASIV on isoproterenol (ISO)-induced apoptosis of hypertrophic cardiomyocyte was associated with the anti-oxidation and calpain-1 inhibition. Hypertrophy, apoptosis, mitochondrial oxidative stress and calpain-1 expression were measured in the heart tissue of Sprague-Dawley (SD) rats and H9C2 cells treated with ISO alone or combination with ASIV. The results showed that ASIV attenuated apoptotic rate, increased Bcl-2 expression, decreased Bax expression, ameliorated the integrity of mitochondrial structure and improved mitochondrial membrane potential (MMP). Moreover, ASIV combination reduced both calpain-1 protein expression and calpain activity, down-regulated mitochondrial NOX4 (mito-NOX4) expression, increased activity of mitochondrial superoxide dismutase (mito-SOD) and mitochondrial catalase (mito-CAT) compared to ISO treated alone. The results suggested that ASIV exerted anti-apoptosis effect on ISO-induced hypertrophic cardiomyocyte by attenuating oxidative stress and calpain-1 activation. PMID:26433482

  17. Amentoflavone inhibits angiogenesis of endothelial cells and stimulates apoptosis in hypertrophic scar fibroblasts.

    PubMed

    Zhang, Jinli; Liu, Zhihe; Cao, Wenjuan; Chen, Liying; Xiong, Xifeng; Qin, Shengnan; Zhang, Zhi; Li, Xiaojian; Hu, Chien-an A

    2014-08-01

    Amentoflavone (8-[5-(5,7-dihydroxy-4-oxo-chromen-2-yl)-2-hydroxy-phenyl]-5,7-dihydroxy-2-(4-hydroxyphenyl) chromen-4-one; AF) is a biflavonoid derived from the extracts of Selaginella tamariscina. It has been shown that AF has diverse biological effects such as antitumour, etc. It is well known that high cell proliferation, viability, angiogenesis and low apoptosis are key factors in hypertrophic scar formation. In this study, we report that AF inhibited viability and stimulated apoptosis in hypertrophic scar fibroblasts (HSFBs). Incubation of HSFBs with AF showed its inhibitory effect on cell viability and the exhibition of a series of cellular changes that were consistent with apoptosis. By Western-blot analysis, our data indicated significant increases in the amounts of cleaved caspases 3, 8, 9 and Bax, several apoptotic promoters and a significant decrease in translationally controlled tumour protein (TCTP), an apoptotic inhibitor, in HSFBs treated with AF. Furthermore, AF showed significant inhibitions on the viability, migration and tube formation of endothelial cells, which are associated with angiogenesis. In conclusion, this study suggests that AF stimulates apoptosis in HSFBs and inhibits angiogenesis of endothelial cells. Therefore, AF is a promising molecule that can be used in hypertrophic scar treatment.

  18. Inhibition of cyclooxygenase-2 impacts chondrocyte hypertrophic differentiation during endochondral ossification.

    PubMed

    Welting, T J M; Caron, M M J; Emans, P J; Janssen, M P F; Sanen, K; Coolsen, M M E; Voss, L; Surtel, D A M; Cremers, A; Voncken, J W; van Rhijn, L W

    2011-01-01

    Skeletogenesis and bone fracture healing involve endochondral ossification, a process during which cartilaginous primordia are gradually replaced by bone tissue. In line with a role for cyclooxygenase-2 (COX-2) in the endochondral ossification process, non-steroidal anti-inflammatory drugs (NSAIDs) were reported to negatively affect bone fracture healing due to impaired osteogenesis. However, a role for COX-2 activity in the chondrogenic phase of endochondral ossification has not been addressed before. We show that COX-2 activity fulfils an important regulatory function in chondrocyte hypertrophic differentiation. Our data reveal essential cross-talk between COX-2 and bone morphogenic protein-2 (BMP-2) during chondrocyte hypertrophic differentiation. BMP-2 mediated chondrocyte hypertrophy is associated with increased COX-2 expression and pharmacological inhibition of COX-2 activity by NSAIDs (e.g., Celecoxib) decreases hypertrophic differentiation in various chondrogenic models in vitro and in vivo, while leaving early chondrogenic development unaltered. Our findings demonstrate that COX-2 activity is a novel factor partaking in chondrocyte hypertrophy in the context of endochondral ossification and these observations provide a novel etiological perspective on the adverse effects of NSAIDs on bone fracture healing and have important implications for the use of NSAIDs during endochondral skeletal development. PMID:22183916

  19. [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.

  20. Involuntary movements in infantile cobalamin deficiency appearing after treatment.

    PubMed

    Ozer, E A; Turker, M; Bakiler, A R; Yaprak, I; Ozturk, C

    2001-07-01

    Involuntary movements may be a symptom in most infants who present with neurologic syndrome of infantile cobalamin (vitamin B12) deficiency. In this report, two infants with cobalamin deficiency are presented. These patients also developed a striking movement disorder that appeared a few days after treatment with intramuscular cobalamin. The movement disorder was characterized by severe involuntary movements, which were a combination of tremor and myoclonus particularly involving tongue, face, pharynx, and legs. The neurologic symptoms improved within a few days after the administration of clonazepam. In each patient the mother was also cobalamin deficient and the infant was solely breast-fed. The cause of involuntary movements that can appear rarely after treatment in infantile cobalamin deficiency is not known. Besides initial neurologic presenting symptoms of cobalamin deficiency, the occurrence of involuntary movements after treatment should also receive attention. This movement disorder may disappear spontaneously, or an additional treatment may be an alternative approach if the symptoms are severe.

  1. [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. PMID:26209506

  2. Infantile tumoral calcinosis of the cervical spine presenting as torticollis.

    PubMed

    Ashraf, Ali; Diehn, Felix E; Luetmer, Patrick H; Lane, John I; Fritchie, Karen; Larson, A Noelle

    2016-01-01

    The computed tomography (CT) and MRI findings of infantile tumoral calcinosis and the utility of image-guided biopsy are demonstrated. A 5-month old presented with torticollis and a calcified cervical spinal mass. The radiologic appearance suggested a malignant neoplasm, prompting CT-guided biopsy, which diagnosed tumoral calcinosis. We hope to increase awareness of this entity and describe image-guided biopsy as a way to avoid morbidity associated with open biopsy.

  3. Infantile myofibroma: a firm, round plaque in an infant.

    PubMed

    Amano, Shinya; Halsey, Mark; Yasuda, Mariko; O'Donnell, Patrick; Csikesz, Courtney

    2016-01-01

    Infantile myofibroma is a rare fibromatous tumor that is variable in presentation and is frequently mistaken for hemangioma or rhabdomyosarcoma. We describe a 14-month-old boy who presented with multiple, enlarging, firm lesions on the shoulder. Biopsy revealed a proliferation of small spindle cells with myxoid and hyalinized stroma infiltrating into the superficial adipose tissue. We provide a brief review of the clinical presentation, histopathologic features, management, and recent advances in our understanding of this rare condition. PMID:27617527

  4. Assessment of Infantile Mineral Imbalances in Autism Spectrum Disorders (ASDs)

    PubMed Central

    Yasuda, Hiroshi; Tsutsui, Toyoharu

    2013-01-01

    The interactions between genes and the environment are now regarded as the most probable explanation for autism. In this review, we summarize the results of a metallomics study in which scalp hair concentrations of 26 trace elements were examined for 1,967 autistic children (1,553 males and 414 females aged 0–15 years-old), and discuss recent advances in our understanding of epigenetic roles of infantile mineral imbalances in the pathogenesis of autism. In the 1,967 subjects, 584 (29.7%) and 347 (17.6%) were found deficient in zinc and magnesium, respectively, and the incidence rate of zinc deficiency was estimated at 43.5% in male and 52.5% in female infantile subjects aged 0–3 years-old. In contrast, 339 (17.2%), 168 (8.5%) and 94 (4.8%) individuals were found to suffer from high burdens of aluminum, cadmium and lead, respectively, and 2.8% or less from mercury and arsenic. High toxic metal burdens were more frequently observed in the infants aged 0–3 years-old, whose incidence rates were 20.6%, 12.1%, 7.5%, 3.2% and 2.3% for aluminum, cadmium, lead, arsenic and mercury, respectively. These findings suggest that infantile zinc- and magnesium-deficiency and/or toxic metal burdens may be critical and induce epigenetic alterations in the genes and genetic regulation mechanisms of neurodevelopment in the autistic children, and demonstrate that a time factor “infantile window” is also critical for neurodevelopment and probably for therapy. Thus, early metallomics analysis may lead to early screening/estimation and treatment/prevention for the autistic neurodevelopment disorders. PMID:24284360

  5. Infantile spasms are associated with abnormal copy number variations.

    PubMed

    Tiwari, Vijay N; Sundaram, Senthil K; Chugani, Harry T; Huq, A H M M

    2013-10-01

    The authors tested the hypothesis that de novo copy number variations (CNVs) implicated in known genomic disorders ("pathogenic CNVs") are significant predisposing factors of infantile spasms. The authors performed a genome-wide analysis of single-nucleotide polymorphism genotyping microarray data to identify the role of de novo/known pathogenic large CNVs in 13 trios of children affected by infantile spasms. A rare, large (4.8 Mb) de novo duplication was detected in the 15q11-13 region of 1 patient. In addition, 3 known pathogenic CNVs (present in the patient as well as 1 of the parents) were detected in total. In 1 patient, a known pathogenic deletion was detected in the region of 2q32.3. Similarly, in 1 other patient, 2 known pathogenic deletions in the regions of 16p11.2 and Xp22.13 (containing CDKL5) were detected. These findings suggest that some specific pathogenic CNVs predispose to infantile spasms and may be associated with different phenotypes. PMID:22914377

  6. 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

  7. 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

  8. 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.

  9. Infantile amnesia reconsidered: a cross-cultural analysis.

    PubMed

    Wang, Qi

    2003-01-01

    A number of theories have been offered over the past hundred years to explain the phenomenon of infantile amnesia, the common inability to remember autobiographical experiences from the first years of life. Recent comparative studies that examine autobiographical memories in different populations, particularly populations in North America and East Asia, have yielded intriguing findings that provide a unique opportunity to revisit some of the major theoretical views and to propose new accounts. In light of these findings, this article discusses five theoretical explanations for infantile amnesia, including cognitive and social discontinuity, the emergence of the self, early parent-child memory sharing, functions of autobiographical memory, and the complexity of life experience. The reconsideration of infantile amnesia from a cross-cultural perspective suggests that while the basic mechanisms and contributing factors may be universal, the specific ways in which these mechanisms and factors are manifested differ qualitatively across cultures. A theoretical approach that takes the larger cultural context into account can help us understand this long-standing puzzle. PMID:12653489

  10. 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.

  11. Extensive facial and orbital infantile hemangiomas associated with high intraocular pressure.

    PubMed

    Shatriah, Ismail; Norazizah, Mohd-Amin; Wan-Hitam, Wan-Hazabbah; Wong, Abd-Rahim; Yunus, Rohaizan; Leo, Seo-Wei

    2013-01-01

    High intraocular pressure is a rare ophthalmic condition associated with infantile hemangiomas that involves the orbit, eyelid, or both. Here, we describe a patient with extensive facial and orbital infantile hemangiomas associated with high intraocular pressure in the affected eye. The prompt management of this challenging condition is essential. PMID:22329437

  12. Ablative fractional photothermolysis for the treatment of hypertrophic burn scars in adult and pediatric patients: a single surgeon's experience.

    PubMed

    Khandelwal, Anjay; Yelvington, Miranda; Tang, Xinyu; Brown, Susan

    2014-01-01

    Many patients develop hypertrophic scarring after a burn injury. Numerous treatment modalities have been described and are currently in practice. Photothermolysis or laser therapy has been recently described as an adjunct for management of hypertrophic burn scars. This study is a retrospective chart review of adult and pediatric patients undergoing fractional photothermolysis at a verified burn center examining treatment parameters as well as pre- and post-Vancouver Scar Scale scores. Forty-four patients underwent fractional photothermolysis during the study period of 8 months. Mean pretreatment score was 7.6, and mean posttreatment score was 5.4. The mean decrease in score was 2.2, which was found to be statistically significant. There were no complications. Fractional photothermolysis is a safe and efficacious adjunct therapy for hypertrophic burn scars. Prospective trials would be beneficial to determine optimal therapeutic strategies.

  13. 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.

  14. Differential Expression of Cell Cycle Regulators During Hyperplastic and Hypertrophic Growth of Broiler Subcutaneous Adipose Tissue.

    PubMed

    Zhang, J; Suh, Y; Choi, Y M; Chen, P R; Davis, M E; Lee, K

    2015-10-01

    Hyperplastic growth and hypertrophic growth within adipose tissue is tightly associated with cell cycle activity. In this study, CCNG2 and CDKN2C were found to be correlated with cell cycle inhibition during fat cell differentiation, whereas CCND3, CCNA1, and ANAPC5 were positively associated with cell cycle activity during fat cell proliferation after selection based on GEO datasets available on the NCBI website. The findings were validated through comparison of expressions of these genes among different tissues/fractions in broiler chickens and time points during primary cell culture using quantitative real-time PCR. Development of broiler subcutaneous adipose tissue was investigated on embryonic days 15 and 17 and on post-hatch days 0, 5, 11, and 33 using H&E staining and PCNA immunostaining with DAPI counter stain. In addition, mRNA expressions of five cell cycle regulators as well as precursor cell and adipocyte markers were measured at those time points. The results suggest that cellular proliferation activity decreased as the fat pad grows, but a population of precursor cells seemed to be maintained until post-hatch day 5 despite increasing differentiation activity. Hypertrophic growth gradually intensified despite a slight cessation on post-hatch day 0 due to increased energy expenditure during hatching and delayed food access. From post-hatch day 5 to day 11, most of the precursor cells may become differentiated. After post-hatch day 11, hyperplastic growth seemed to slow, while hypertrophic growth may become dominant. This study provides further understanding about broiler fat tissue development which is imperative for effective control of fat deposition.

  15. Expression of proto-oncogenes and gene mutation of sarcomeric proteins in patients with hypertrophic cardiomyopathy.

    PubMed

    Kai, H; Muraishi, A; Sugiu, Y; Nishi, H; Seki, Y; Kuwahara, F; Kimura, A; Kato, H; Imaizumi, T

    1998-09-21

    Several mutations of cardiac beta-myosin heavy chain (beta-MHC) gene were reported in patients with hypertrophic cardiomyopathy (HCM). Involvement of proto-oncogenes has been shown in the mechanism of experimental cardiac hypertrophy. This study sought to examine the effects of c-H-ras and c-myc expression in the steady-state myocardium on hypertrophic changes and to evaluate the possible interaction between beta-MHC mutation and proto-oncogene expression in HCM. Endomyocardial biopsy was performed in 17 HCM patients (5 beta-MHC mutations and 1 troponin T mutation) and 7 control subjects (no mutation). Reverse transcription-polymerase chain reaction analysis revealed c-H-ras expression in all members of both groups. Cardiomyocyte size was correlated with the expression level of c-H-ras (P<0.001), and c-H-ras expression was upregulated in HCM patients (P<0.01). HCM patients with a beta-MHC mutation had the higher c-H-ras expression than did control subjects or patients without a mutation (P<0.01). c-myc mRNA was expressed in 7 of 17 HCM patients but not in control subjects. Myocyte size was greater in c-myc-positive HCM patients than in control subjects and c-myc-negative HCM patients (P<0.001 and P<0.05, respectively). The proto-oncogene expression did not affect clinical findings, myocardial fibrosis, or disarray. In conclusion, c-H-ras and c-myc expression in the steady-state myocardium may play a role in the hypertrophic mechanism in HCM. It is possible that ss-MHC gene mutation has some effect on the regulation of proto-oncogene expression in HCM.

  16. Time course of the angiogenic response during normotrophic and hypertrophic scar formation in humans.

    PubMed

    van der Veer, Willem M; Niessen, Frank B; Ferreira, José A; Zwiers, Peter J; de Jong, Etty H; Middelkoop, Esther; Molema, Grietje

    2011-01-01

    Previous research suggests that in hypertrophic scars (HSs), an excess of microvessels is present compared with normotrophic scars (NSs). The aim of our study was to quantify vascular densities in HSs and normotrophic scars and to provide an insight into the kinetics of changes in the expression of angiogenic factors in time during wound healing and HS formation. Human presternal wound healing after cardiothoracic surgery through a sternotomy incision was investigated in a standardized manner. Skin biopsies were collected at consecutive time points, i.e., during surgery and 2, 4, 6, 12, and 52 weeks postoperatively. The expression levels of angiopoietin-1, angiopoietin-2, Tie-2, vascular endothelial growth factor, and urokinase-type plasminogen activator were measured by real-time reverse transcription-polymerase chain reaction. Quantification of angiogenesis and cellular localization of the proteins of interest were based on immunohistochemical analysis. Microvessel densities were higher in the HSs compared with the normotrophic scars 12 weeks (p=0.017) and 52 weeks (p=0.030) postoperatively. Angiopoietin-1 expression was lower in the hypertrophic group (p<0.001), which, together with a nonsignificant increase of angiopoietin-2 expression, represented a considerable decrease in the angiopoietin-1/angiopoietin-2 ratio in the hypertrophic group 4 weeks (p=0.053), 12 weeks (p<0.001), and 52 weeks (p<0.001) postoperatively. The expression of urokinase-type plasminogen activator was up-regulated during HS formation (p=0.008). Vascular endothelial growth factor expression was not significantly different when comparing both groups. In summary, the differential expression of angiopoietin-1, angiopoietin-2, and urokinase-type plasminogen activator in time is associated with an increased vascular density in HSs compared with normotrophic scars.

  17. Blunted hypertrophic response in aged skeletal muscle is associated with decreased ribosome biogenesis

    PubMed Central

    Kirby, Tyler J.; Lee, Jonah D.; England, Jonathan H.; Chaillou, Thomas; Esser, Karyn A.

    2015-01-01

    The ability of skeletal muscle to hypertrophy in response to a growth stimulus is known to be compromised in older individuals. We hypothesized that a change in the expression of protein-encoding genes in response to a hypertrophic stimulus contributes to the blunted hypertrophy observed with aging. To test this hypothesis, we determined gene expression by microarray analysis of plantaris muscle from 5- and 25-mo-old mice subjected to 1, 3, 5, 7, 10, and 14 days of synergist ablation to induce hypertrophy. Overall, 1,607 genes were identified as being differentially expressed across the time course between young and old groups; however, the difference in gene expression was modest, with cluster analysis showing a similar pattern of expression between the two groups. Despite ribosome protein gene expression being higher in the aged group, ribosome biogenesis was significantly blunted in the skeletal muscle of aged mice compared with mice young in response to the hypertrophic stimulus (50% vs. 2.5-fold, respectively). The failure to upregulate pre-47S ribosomal RNA (rRNA) expression in muscle undergoing hypertrophy of old mice indicated that rDNA transcription by RNA polymerase I was impaired. Contrary to our hypothesis, the findings of the study suggest that impaired ribosome biogenesis was a primary factor underlying the blunted hypertrophic response observed in skeletal muscle of old mice rather than dramatic differences in the expression of protein-encoding genes. The diminished increase in total RNA, pre-47S rRNA, and 28S rRNA expression in aged muscle suggest that the primary dysfunction in ribosome biogenesis occurs at the level of rRNA transcription and processing. PMID:26048973

  18. Clinical and Histological Correlation in Post-Burn Hypertrophic Scar for Pain and Itching Sensation

    PubMed Central

    Choi, Young-Hee; Kim, Kwang-Min; Kim, Hye-One; Jang, Young-Chul

    2013-01-01

    Background Hypertrophic scar following a burn is caused by the excessive deposit of collagen resulting in an exaggerated wound healing response. The burn patient complains of pain and itching over the scar, which can give rise to cosmetic and functional problems. Objective The aim of this study was to investigate the clinical and histological correlation of a hypertrophic burn scar for itching and pain sensations. Methods Thirty-eight patients underwent a scar release and skin graft. the modified Vancouver scar scale and the verbal numerical rating scale were recorded. All biopsies were taken from scar tissue (scar) and normal tissue (normal). Histologically, tissues were observed in the epidermis, the monocytes around the vessels, the collagen fiber, elastic fiber, and the mast cells. Results The mean total score of MVSS was 8.4±2.7 (pliability 2.0±0.9; thickness 1.8±0.9; vascularity 2.0± 0.9; and pigmentation 2.1±0.9). Pain and itching were 2.4±2.0 and 2.9±3.0. Epidermis were 7.9±2.8 layers (scar) and 4.0±0.8 layers (normal). The collagen fibers were thin and dense (scar) and thicker and loose (normal). The elastic fibers were thin and nonexistent (scar) and thin and loose (normal). Mast cells were 11.2±5.8/high power field (scar) and 7.4±4.1 (normal). Conclusion As the scar tissue thickens, the itching becomes more severe. The stiffness of the scar with the pain appeared to be associated with the condition of the tissue. The correlation between clinical and histological post-burn hypertrophic scars will help further studies on the scar. This helped with the development of the base material for therapeutic strategies. PMID:24371389

  19. 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

  20. 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. PMID:25939875

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

    PubMed

    Andersen, Asger; Nielsen, Jan M; Rasalingam, Sivagowry; Sloth, Erik; Nielsen-Kudsk, Jens Erik

    2013-09-01

    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 ([Formula: see text]) 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; [Formula: see text]), vehicle ([Formula: see text]), or dobutamine (10 μg/kg; [Formula: see text]). 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 ([Formula: see text] vs. [Formula: see text] cm; [Formula: see text]), RVsP ([Formula: see text] vs. [Formula: see text] mmHg; [Formula: see text]), and dp/dtmax ([Formula: see text] vs. [Formula: see text] mmHg/s; [Formula: see text]). 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

  2. 11β-HSD1 reduces metabolic efficacy and adiponectin synthesis in hypertrophic adipocytes.

    PubMed

    Koh, Eun Hee; Kim, Ah-Ram; Kim, Hyunshik; Kim, Jin Hee; Park, Hye-Sun; Ko, Myoung Seok; Kim, Mi-Ok; Kim, Hyuk-Joong; Kim, Bum Joong; Yoo, Hyun Ju; Kim, Su Jung; Oh, Jin Sun; Woo, Chang-Yun; Jang, Jung Eun; Leem, Jaechan; Cho, Myung Hwan; Lee, Ki-Up

    2015-06-01

    Mitochondrial dysfunction in hypertrophic adipocytes can reduce adiponectin synthesis. We investigated whether 11β-hydroxysteroid dehydrogenase type 1 (11β-HSD1) expression is increased in hypertrophic adipocytes and whether this is responsible for mitochondrial dysfunction and reduced adiponectin synthesis. Differentiated 3T3L1 adipocytes were cultured for up to 21 days. The effect of AZD6925, a selective 11β-HSD1 inhibitor, on metabolism was examined. db/db mice were administered 600 mg/kg AZD6925 daily for 4 weeks via gastric lavage. Mitochondrial DNA (mtDNA) content, mRNA expression levels of 11 β -H sd1 and mitochondrial biogenesis factors, adiponectin synthesis, fatty acid oxidation (FAO), oxygen consumption rate and glycolysis were measured. Adipocyte hypertrophy in 3T3L1 cells exposed to a long duration of culture was associated with increased 11 β -Hsd1 mRNA expression and reduced mtDNA content, mitochondrial biogenesis factor expression and adiponectin synthesis. These cells displayed reduced mitochondrial respiration and increased glycolysis. Treatment of these cells with AZD6925 increased adiponectin synthesis and mitochondrial respiration. Inhibition of FAO by etomoxir blocked the AZD6925-induced increase in adiponectin synthesis, indicating that 11β-HSD1-mediated reductions in FAO are responsible for the reduction in adiponectin synthesis. The expression level of 11 β -Hsd1 was higher in adipose tissues of db/db mice. Administration of AZD6925 to db/db mice increased the plasma adiponectin level and adipose tissue FAO. In conclusion, increased 11β-HSD1 expression contributes to reduced mitochondrial respiration and adiponectin synthesis in hypertrophic adipocytes.

  3. 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.

  4. Usefulness of MRI to demonstrate the mechanisms of myocardial ischemia in hypertrophic cardiomyopathy with myocardial bridge.

    PubMed

    Thomson, Vivien; Botnar, Rene; Croisille, Pierre

    2007-01-01

    We present a case of symptomatic primary hypertrophic cardiomyopathy (HCM) associated with myocardial bridging of the left anterior descending (LAD) artery and suspected ischemia that could be related either to LAD artery compression or to microvascular perfusion abnormalities. MRI demonstrated the morphological appearance of myocardial hypertrophy, and coronary MR angiography evidenced the myocardial bridge and its functional consequences with stress MR perfusion. In conclusion, as a non-invasive comprehensive imaging technique, MRI should be considered in identifying the mechanisms of myocardial ischemia in HCM with myocardial bridge. PMID:16888385

  5. Right ventricular cavity near obliteration in neonatal severe biventricular hypertrophic cardiomyopathy

    PubMed Central

    Jivanji, Salim GM; Daubeney, Piers; Franklin, Rodney; Sheppard, Mary

    2014-01-01

    A newborn presenting with cyanosis at day 9 of life was admitted to the local hospital. Initial local echocardiography confirmed a cardiac issue and the patient was transferred to a tertiary cardiac hospital. Further imaging confirmed a rare presentation of cardiomyopathy with severe right ventricular outflow tract obstruction. Surgery was performed but with postoperative haemodynamic instability complicated by incessant ventricular tachycardia. Following discussion with the family, care was withdrawn. Postmortem demonstrated a rare form of hypertrophic cardiomyopathy with right ventricular outflow tract obstruction not previously described in a neonate. PMID:25336549

  6. The role of intraoperative transesophageal echocardiographic monitoring in a patient with hypertrophic cardiomyopathy undergoing laparoscopic surgery.

    PubMed

    Gregory, Stephen H; Fierro, Michael A

    2016-11-01

    Hypertrophic cardiomyopathy (HCM) presents a significant perioperative challenge. Anesthetic drugs, patient positioning, and surgical technique can provoke worsening left ventricular outflow tract obstruction and hemodynamic deterioration. In this case report, we present the perioperative management of a 70-year-old male with a history of HCM who underwent a robotic laparoscopic prostatectomy. Discussion focuses on the utilization of echocardiographic guidance in the care of patients with HCM undergoing noncardiac surgery, as well as the pathophysiology of laparoscopic insufflation and its effects on left ventricular outflow tract obstruction in HCM. PMID:27687358

  7. Trileaflet Mitral Valve with Three Papillary Muscles Associated with Hypertrophic Cardiomyopathy: A Novel Case.

    PubMed

    Rosanio, Salvatore; Simonsen, Cameron J; Starwalt, John; Keylani, Abdul M; Vitarelli, Antonio

    2015-09-01

    Congenital mitral valve (MV) malformations are uncommon, except for MV prolapse. Despite their infrequency, most of them are well-known and defined entities, such as congenital MV stenosis with two papillary muscles, parachute MV, supravalvular mitral ring, hypoplastic MV, isolated cleft in the anterior and/or posterior leaflets, and double-orifice MV. A trileaflet MV with three separate papillary muscles with concordant atrioventricular and ventricle-arterial connections is exceptionally rare. To the best of the authors' knowledge, it has been reported only once in association with subaortic valvular stenosis. We hereby describe a novel case associated with hypertrophic cardiomyopathy. PMID:25809503

  8. Homozygous mutations in the 15-hydroxyprostaglandin dehydrogenase gene in patients with primary hypertrophic osteoarthropathy.

    PubMed

    Yüksel-Konuk, Berrin; Sırmacı, Aslı; Ayten, Gülen Ece; Özdemir, Mustafa; Aslan, İdil; Yılmaz-Turay, Ülkü; Erdoğan, Yurdanur; Tekin, Mustafa

    2009-11-01

    Mutations in HPGD have recently been reported to cause primary hypertrophic osteoarthropathy (PHO), a rare genetic disease characterized by digital clubbing, pachydermia, and periostosis. We screened HPGD mutations in six patients from three unrelated Turkish families with PHO, in which we showed one previously reported, p.A140P, and one novel, p.M1L, homozygous mutations. Both mutations co-segregated with the phenotype in all three families and were absent in 100 Turkish controls. These results confirm the presence of biallelic HPGD mutations in patients with PHO in an independent series from a different population. PMID:19306095

  9. Spectrum of Infantile Esotropia in Primates: Behavior, Brains and Orbits

    PubMed Central

    Tychsen, Lawrence; Richards, Michael; Wong, Agnes; Foeller, Paul; Burhkalter, Andreas; Narasimhan, Anita; Demer, Joseph

    2009-01-01

    Introduction Recent studies of human infants have described a spectrum of early-onset esotropia, from small-variable-angle to large heterotropias.1 We report here a similar spectrum of early-onset esotropia in infant monkeys, with emphasis on the relationship between visuomotor deficits, central nervous system (CNS) circuitry and orbital anatomy. Methods Eye movements were recorded in macaque monkeys with natural, infantile-onset esotropia (n=7) and in control monkeys (n=2) to assess alignment, latent nystagmus, dissociated vertical deviation (DVD), and pursuit/optokinetic nystagmus (OKN) asymmetries. Acuity was measured by preferential-looking technique or spatial sweep VEP (SSVEP). Geniculo-striate pathways were then analyzed with neuroanatomic tracers and metabolic labels. Extraocular muscles were examined by high-resolution magnetic resonance imaging (MRI) and anatomic sectioning of whole orbits. Results Esotropia ranged from 4-13.5° (7-24 prism diopters [PD]) with fixation preference (if any) varying idiosyncratically (as in human). Severity of ocular motor dysfunction (i.e. nystagmus velocity, DVD amplitude, pursuit-OKN nasal bias index), increased as the magnitude of esotropia angle. Animals with greater ocular motor deficits tended to have greater visual area V1 (striate cortex) neuroanatomic deficits, evident as fewer binocular horizontal connections in V1. Orbital MRI/anatomic analysis showed no difference in horizontal rectus cross sectional areas, muscle paths, innervation densities or cytoarchitecture compared to normal animals. Conclusion The infantile esotropia spectrum in non-human primates is remarkably similar to that reported in human infants. Concomitant esotropia in these primates cannot be ascribed to abnormalities of the extraocular muscles or orbit. These findings, combined with epidemiologic studies of human, suggest that perturbations of CNS binocular pathways in early development are the primary cause of the infantile esotropia syndrome

  10. 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

  11. Pseudoepitheliomatous Hyperplasia in a Red Pigment Tattoo: A Separate Entity or Hypertrophic Lichen Planus-like Reaction?

    PubMed

    Kazlouskaya, Viktoryia; Junkins-Hopkins, Jacqueline M

    2015-12-01

    Red pigment tattoos are known to cause pseudoepitheliomatous hyperplasia in the skin, frequently simulating squamous cell carcinoma or keratoacanthoma. Herein, the authors present two additional cases of red pigment tattoo pseudoepitheliomatous hyperplasia in which they noted a lichenoid tissue reaction. They reviewed the previously published cases and observed a lichenoid reaction in the histopathological images similar to hypertrophic lichen planus. The authors suggest that these reactions might best be referred to as "lichenoid reaction with pseudoepitheliomatous hyperplasia" or "hypertrophic lichen planus-like reaction." Accordingly, recognition of an inflammatory component may allow additional treatment options. PMID:26705448

  12. [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.

  13. A rare case of infantile myofibromatosis and review of literature.

    PubMed

    Hausbrandt, Peter A; Leithner, Andreas; Beham, Alfred; Bodo, Koppany; Raith, Johannes; Windhager, Reinhard

    2010-01-01

    Infantile myofibromatosis is a rare benign tumor-disease (1/400,000). Four different types have been reported in literature. The most commonly affected body areas are the head, the neck, and the trunk. We would like to present a rare case of a multicentric type with singular visceral involvement and a literature review of all case series with more than five patients. A 9-month-old boy presented with a swelling on the medial side of his proximal left tibia. The lesion which was present since birth, was well palpable, indolent, hard, and mobile in relation to the surrounding tissue. Radiographic films and ultrasound examination presented a pretibial soft-tissue tumor mass with calcifications and two osteolytic lesions with a sclerotic rim. A skeletal survey showed more osteolytic lesions, but the magnetic resonance imaging showed no more soft-tissue lesions. The rapid frozen section biopsy hinted at the diagnosis of histiocytosis X. The definitive histological result 6 days later was infantile myofibromatosis. As therapy, we determined a wait-and-see policy with controls all 3 months. At 20 months follow-up, the boy showed beginning of regression of all lesions. Infantile myofibromatosis is a very rare benign tumor-disease. Radiologically often soft-tissue masses with calcifications and osteolytic lesions with sclerotic rims are described. These findings also can be interpreted as histiocytosis X, which is a potential differential diagnosis. Histopathologically, cells characteristically appear as spindle-shaped fibroblast cells with pale pink cytoplasm and elongated nuclei and the immunophenotype is defined with a positive reaction on smooth-muscle antigen vimentin and the muscle-specific antigen HHF-35. The data of the literature review underline that a wait-and-see-policy should be considered as the first treatment of choice as in most instances the bony lesions regress spontaneously. However, a thorough examination has to be carried out to exclude lesion in other

  14. 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

  15. Symmetrical infantile thalamic degeneration with focal cytoplasmic calcification.

    PubMed

    Ambler, M; O'Neil, W

    1975-10-27

    Infantile thalamic degeneration is a rare clinico-pathological entity. Restricted location of the lesion and peculiar cytopathological changes serve to distinguish this disorder from other common encephalopathies. Optical and ultrastructural studies demonstrate cytoplasmic calcopherules in previously viable cells. According to current concepts of acute cellular reactions to injury and mechanism of intracellular calcification, the cytological changes cannot be attributed to either hypoxic ischemic cell change or dystrophic calcification. By analogy to other human and pathological material, the most likely basis for nondystrophic calcopherule formation is toxic or infectious injury with local synthesis, or autophagic or phagolysosomal degradation of cellular debris of specific chemical composition favoring calcium deposition.

  16. [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. PMID:27600742

  17. Review of topical beta blockers as treatment for infantile hemangiomas.

    PubMed

    Painter, Sally L; Hildebrand, Göran Darius

    2016-01-01

    The treatment of infantile hemangiomas changed from the use of oral corticosteroids to oral propranolol on the serendipitous discovery of propanolol's clinical effectiveness in 2008. Since then, clinicians have begun to use topical beta blockers--in particular, timolol maleate 0.5% gel forming solution--with good effect. Topical beta blockers are now used for lesions with both deep and superficial components and those that are amblyogenic. When initiated in the proliferative phase of the lesion, the effectiveness of the treatment can be seen within days. There is no consensus on dosing, treatment bioavailability, or clinical assessment of lesions, but these are topics for future research.

  18. Infantile refsum disease: gastrointestinal presentation of a peroxisomal disorder.

    PubMed

    Mandel, H; Meiron, D; Schutgens, R B; Wanders, R J; Berant, M

    1992-01-01

    This article describes two siblings with infantile Refsum disease (IRD) whose initial presentation was that of malabsorption and mimicked a-beta- or homozygous hypo-beta-lipoproteinemia. Failure to recognize IRD in the first-born child precluded proper genetic counseling and prenatal diagnosis in subsequent pregnancies and also caused considerable delay in diagnosing IRD in the second child. The clinical heterogeneity of peroxisomal disorders constitutes a diagnostic challenge, which demands a high degree of awareness from the part of the clinician. This is particularly the case with IRD, where protracted diarrhea with low serum cholesterol levels appears to be a frequently occurring initial feature during the 1st months of life.

  19. [Motor-coordination disorders in patients with infantile cerebral palsy].

    PubMed

    Aslanov, A M; Avakian, G N; Bulaeva, N V; Kovaleva, N I

    1984-01-01

    A clinico-electrophysiological study of motor-coordinatory impairments was carried out in 117 patients with infantile cerebral paralysis. The results obtained suggest a possibility of a slow rate of myelinization, inadequate development of the coordinatory systems due to early damage to the brain associated with the systemic localization of the defect, and the obligatory involvement of extrapyramidal impairments in the realization of pathological dyskinesias. The clinical and electrophysiological examination made it possible to sum up all clinical manifestations of the pathology under a heading "discoordinatory extrapyramidal dyskinesias". PMID:6506951

  20. Infantile Systemic Hyalinosis: Report of 17-year Experience

    PubMed Central

    Raeeskarami, Seyed Reza; Aghighi, Yahya; Afshin, Azadeh; Malek, Abdolreza; Zamani, Ali; Ziaee, Vahid

    2014-01-01

    Background: Infantile Systemic Hyalinosis (ISH) is a very rare autosomal recessive disorder characterized by connective tissue involvement as hyaline deposition in skin, gastrointestinal tract, muscles, glands and other organs. Cases Presentation: We report eight Iranian children (4 male and 4 female) with ISH referred to our hospital from 1996 to 2013. The illness had been diagnosed by clinical manifestations and disease progression. Six of them died and two are alive but very sick. Conclusion: ISH is a very rare disorder with poor prognosis. Seventy five percent of our 8 patients died before 2 years old due to severe diarrhea, malabsorption and/or infection. PMID:26019786

  1. 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. PMID:24932902

  2. 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.

  3. 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.

  4. Insidious peripheral neuropathy occurring under treatment in infantile MTHFR deficiency.

    PubMed

    Chaabene-Masmoudi, A; Mesrati, F; Zittoun, J; Landrieu, P

    2009-12-01

    5,10-Methylenetetrahydrofolate reductase (MTHFR) deficiency was diagnosed in a 1-month-old baby with signs of cerebral distress. Under a classic treatment using methionine supplementation, methyl donor (betaine) folinic acid, vitamin B(6) and vitamin B(12), the neuromotor development was satisfactory. At 15 years of age, however, despite no clear modification of the biochemical markers in body fluids, she developed a clinically overt peripheral axonal neuropathy. Only partial clinical improvement was obtained after reinforcement of betaine doses. Surveillance of the peripheral nerve is indicated in MTHFR deficiency, including in the infantile form with a good therapeutic compliance.

  5. New treatment strategies for hypertrophic obstructive cardiomyopathy: alcohol ablation of the septum: the new gold standard?

    PubMed

    Hess, Otto M; Sigwart, Ulrich

    2004-11-16

    Hypertrophic cardiomyopathy is a primary myocardial disorder with an autosomal pattern of inheritance characterized by inappropriate myocardial hypertrophy. Annual mortality has been reported to be 1% to 2% and sudden death represents the most common cause. Treatment strategies are 1) medical therapy in patients with mild to moderate symptoms, 2) reduction of septal hypertrophy by surgical myectomy or alcohol ablation, and 3) implantation of an automatic cardioverter-defibrillator in the presence of non-sustained ventricular tachyarrhythmias. A debate has been started on whether surgical myectomy or alcohol ablation of the septum is the appropriate treatment for hypertrophic obstructive cardiomyopathy. Surgical (transaortic) myectomy has been the gold standard in the past 20 to 30 years for treatment of symptomatic patients with significant hemodynamic outflow tract obstruction. However, modern interventional technologies allow reduction of the myocardial septum by injection of alcohol into the first or second septal branch under guidance of two-dimensional (2D)-contrast echocardiography. This percutaneous technique not only has a lower morbidity than surgical myectomy but can be guided precisely by 2D echocardiography. One potential complication is transient (<30%) or permanent (<10%) atrioventricular block III; however, this complication is relatively rare. A randomized trial comparing the two treatment modalities is lacking, and the chance is small that such a trial will be performed because alcohol ablation can be done with high success and low complication rates, leaving only complex interventions (with valvular reconstructions and so on) for surgical myectomy.

  6. Percutaneous Septal Ablation in Hypertrophic Obstructive Cardiomyopathy: From Experiment to Standard of Care

    PubMed Central

    Faber, Lothar

    2014-01-01

    Hypertrophic cardiomyopathy (HCM) is one of the more common hereditary cardiac conditions. According to presence or absence of outflow obstruction at rest or with provocation, a more common (about 60–70%) obstructive type of the disease (HOCM) has to be distinguished from the less common (30–40%) nonobstructive phenotype (HNCM). Symptoms include exercise limitation due to dyspnea, angina pectoris, palpitations, or dizziness; occasionally syncope or sudden cardiac death occurs. Correct diagnosis and risk stratification with respect to prophylactic ICD implantation are essential in HCM patient management. Drug therapy in symptomatic patients can be characterized as treatment of heart failure with preserved ejection fraction (HFpEF) in HNCM, while symptoms and the obstructive gradient in HOCM can be addressed with beta-blockers, disopyramide, or verapamil. After a short overview on etiology, natural history, and diagnostics in hypertrophic cardiomyopathy, this paper reviews the current treatment options for HOCM with a special focus on percutaneous septal ablation. Literature data and the own series of about 600 cases are discussed, suggesting a largely comparable outcome with respect to procedural mortality, clinical efficacy, and long-term outcome. PMID:26556411

  7. 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.

  8. Prostaglandin E2 inhibits collagen synthesis in dermal fibroblasts and prevents hypertrophic scar formation in vivo.

    PubMed

    Zhao, Jingling; Shu, Bin; Chen, Lei; Tang, Jinming; Zhang, Lijun; Xie, Julin; Liu, Xusheng; Xu, Yingbin; Qi, Shaohai

    2016-08-01

    Hypertrophic scarring is a common dermal fibroproliferative disorder characterized by excessive collagen deposition. Prostaglandin E2 (PGE2 ), an important inflammatory product synthesized via the arachidonic acid cascade, has been shown to act as a fibroblast modulator and to possess antifibroblastic activity. However, the mechanism underlying the antifibrotic effect of PGE2 remains unclear. In this study, we explored the effects of PGE2 on TGF-β1-treated dermal fibroblasts in terms of collagen production and to determine the regulatory pathways involved, as well as understand the antiscarring function of PGE2 in vivo. We found that PGE2 inhibited TGF-β1-induced collagen synthesis by regulating the balance of matrix metalloproteinases (MMPs) and tissue inhibitor of metalloproteinase (TIMP). It did so by upregulating cAMP through the E prostanoid (EP)2 receptor. We determined that inhibition of the TGF-β1/Smad pathway by PGE2 is associated with its ability to inhibit collagen synthesis. An in vivo study further confirmed that PGE2 inhibits hypertrophic scar formation by decreasing collagen production. Our results demonstrate that the novel anti-scarring function of PGE2 is achieved by balancing MMPs/TIMP expression and decreasing collagen production. PMID:26997546

  9. Hypoxia-driven glycolytic and fructolytic metabolic programs: Pivotal to hypertrophic heart disease.

    PubMed

    Mirtschink, Peter; Krek, Wilhelm

    2016-07-01

    Pathologic cardiac growth is an adaptive response of the myocardium to various forms of systemic (e.g. pressure overload) or genetically-based (e. g. mutations in genes encoding sarcomeric proteins) stress. It represents a key aspect of different types of heart disease including aortic stenosis (AS) and hypertrophic cardiomyopathy (HCM). While many of the pathophysiological and hemodynamical aspects of pathologic cardiac hypertrophy have been uncovered during the last decades, its underlying metabolic determinants are only beginning to come into focus. Here, we review the epidemiological evidence and pathological features of hypertrophic heart disease in AS and HCM and consider in this context the development of microenvironmental tissue hypoxia as a key component of the heart's growth response to pathologic stress. We particularly reflect on recent evidence illustrating how activation of hypoxia-inducible factor (HIF) drives glycolytic and fructolytic metabolic programs to maintain ATP generation and support anabolic growth of the pathologically-stressed heart. Finally we discuss how this metabolic programs, when protracted, deprive the heart of energy leading ultimately to heart failure. This article is part of a Special Issue entitled: Cardiomyocyte Biology: Integration of Developmental and Environmental Cues in the Heart edited by Marcus Schaub and Hughes Abriel.

  10. Influence of verapamil therapy on left ventricular performance at rest and during exercise in hypertrophic cardiomyopathy.

    PubMed

    Hanrath, P; Schlüter, M; Sonntag, F; Diemert, J; Bleifeld, W

    1983-09-01

    To determine the hemodynamic effect of verapamil at rest and during exercise, 18 patients with hypertrophic cardiomyopathy were studied before and after 7 weeks of treatment with oral verapamil (maximal dose, 720 mg/day). At rest and at peak exercise, verapamil produced a significant increase in left ventricular (LV) systolic performance in terms of stroke volume index (rest, from 43 +/- 11 to 53 +/- 11 ml/m2, p less than 0.001; exercise, from 46 +/- 11 to 51 +/- 10 ml/m2, p less than 0.01), whereas heart rate decreased (rest, from 81 +/- 14 to 70 +/- 11 min-1, p less than 0.001; exercise, from 150 +/- 21 to 141 +/- 18 min-1, p less than 0.01). Cardiac index at rest and during exercise remained unchanged. Systolic vascular resistance did not change at rest, but decreased significantly during exercise (974 +/- 243 to 874 +/- 174 dynes s cm-5; p less than 0.05). After verapamil administration, pulmonary artery pressures did not change at rest, but decreased significantly during exercise. This was probably due to a shift in the LV pressure-volume relation. The improvement in LV hemodynamics was associated with a significant increase in exercise capacity. The findings of this study indicate that in patients with hypertrophic cardiomyopathy, hemodynamic improvement at rest and during exercise can be achieved by chronic administration of verapamil.

  11. Tetrandrine induces microRNA differential expression in human hypertrophic scar fibroblasts in vitro.

    PubMed

    Ning, P; Peng, Y; Liu, D W; Hu, Y H; Liu, Y; Liu, D M

    2016-01-01

    MicroRNAs (miRNAs) have recently been shown to play a role in normal wound healing process. miRNAs may be linked to pathologic wound healing and closely related to the formation of hypertrophic scars. This study aimed to explore the effects of tetrandrine on the miRNA expression profile in human hypertrophic scar fibroblasts (HSFs) in vitro. HSFs were randomly divided into two groups: the tetrandrine treatment group and the control group. The experimental and control groups were collected and analyzed by miRNA array after a 48-h culture. Real-time reverse transcriptase-polymerase chain reaction (RT-PCR) was performed to confirm the array results. The targets of differentially expressed miRNA were functionally annotated using bioinformatic approaches. miRNA microarray analysis identified 193 differentially expressed miRNAs and the expression of 186 miRNAs in the experimental group decreased while that of 7 miRNAs increased compared to the control group. The most significantly downregulated miRNA was hsa-miR-1246, and hsa-miR-27b had the highest expression level. Significant differentially expressed miRNAs were predicted to be related to several important signaling pathways related to scar wound healing. The differential miRNA expression identified in this study provides the experimental basis for further understanding the anti-fibrosis effect of tetrandrine. PMID:26909951

  12. 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

  13. Comparison between Stromal Vascular Fraction and Adipose Mesenchymal Stem Cells in Remodeling Hypertrophic Scars.

    PubMed

    Domergue, Sophie; Bony, Claire; 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.

  14. Fibroproliferative effect of microRNA-21 in hypertrophic scar derived fibroblasts.

    PubMed

    Li, Guangzao; Zhou, Renpeng; Zhang, Qi; Jiang, Banghong; Wu, Qingkai; Wang, Chen

    2016-07-01

    Hypertrophic scar (HS) is a fibroproliferative disorder caused by abnormal wound healing, which is characterized by excessive deposition of extracellular matrix (ECM) secreted by fibroblasts. We previous have found that expression of microRNA-21(miR-21) was increased in tissues and fibroblasts of HS. However, the underlying molecular mechanism remains to be further elucidated. In this study, we identified the miR-21 was a marker for the phenotype of HS fibroblasts, as anti-miR-21 reduced expression of fibrosis markers such as Col1A1, Col3A1, Fn and α-SMA in fibroblasts and overexpression of miR-21 promoted fibroproliferative expression in fibroblasts. Furthermore, we also found that miR-21 promoted TGF-β1 induced fibroproliferative expression by repressing Smad7 expression in vitro. In addition, the miR-21 inhibitor inhibited the growth of hypertrophic scar tissue in vivo (nude mice experimental model). These results indicated that miR-21 was a critical regulator for HS formation and TGF- β1/miR-21/Smad7 pathway could be a useful therapeutic target for the treatment of HS. PMID:27207585

  15. TGF-β1 mediates the hypertrophic cardiomyocyte growth induced by angiotensin II

    PubMed Central

    Schultz, Jo El J.; Witt, Sandra A.; Glascock, Betty J.; Nieman, Michelle L.; Reiser, Peter J.; Nix, Stacey L.; Kimball, Thomas R.; Doetschman, Thomas

    2002-01-01

    Angiotensin II (Ang II), a potent hypertrophic stimulus, causes significant increases in TGFb1 gene expression. However, it is not known whether there is a causal relationship between increased levels of TGF-β1 and cardiac hypertrophy. Echocardiographic analysis revealed that TGF-β1–deficient mice subjected to chronic subpressor doses of Ang II had no significant change in left ventricular (LV) mass and percent fractional shortening during Ang IItreatment. In contrast, Ang II–treated wild-type mice showed a >20% increase in LV mass and impaired cardiac function. Cardiomyocyte cross-sectional area was also markedly increased in Ang II–treated wild-type mice but unchanged in Ang II–treated TGF-β1–deficient mice. No significant levels of fibrosis, mitotic growth, or cytokine infiltration were detected in Ang II–treated mice. Atrial natriuretic factor expression was ∼6-fold elevated in Ang II–treated wild-type, but not TGF-β1–deficient mice. However, the α- to β-myosin heavy chain switch did not occur in Ang II–treated mice, indicating that isoform switching is not obligatorily coupled with hypertrophy or TGF-β1. The Ang IIeffect on hypertrophy was shown not to result from stimulation of the endogenous renin-angiotensis system. These results indicate that TGF-β1 is an important mediator of the hypertrophic growth response of the heart to Ang II. PMID:11901187

  16. Hypoxia-driven glycolytic and fructolytic metabolic programs: Pivotal to hypertrophic heart disease.

    PubMed

    Mirtschink, Peter; Krek, Wilhelm

    2016-07-01

    Pathologic cardiac growth is an adaptive response of the myocardium to various forms of systemic (e.g. pressure overload) or genetically-based (e. g. mutations in genes encoding sarcomeric proteins) stress. It represents a key aspect of different types of heart disease including aortic stenosis (AS) and hypertrophic cardiomyopathy (HCM). While many of the pathophysiological and hemodynamical aspects of pathologic cardiac hypertrophy have been uncovered during the last decades, its underlying metabolic determinants are only beginning to come into focus. Here, we review the epidemiological evidence and pathological features of hypertrophic heart disease in AS and HCM and consider in this context the development of microenvironmental tissue hypoxia as a key component of the heart's growth response to pathologic stress. We particularly reflect on recent evidence illustrating how activation of hypoxia-inducible factor (HIF) drives glycolytic and fructolytic metabolic programs to maintain ATP generation and support anabolic growth of the pathologically-stressed heart. Finally we discuss how this metabolic programs, when protracted, deprive the heart of energy leading ultimately to heart failure. This article is part of a Special Issue entitled: Cardiomyocyte Biology: Integration of Developmental and Environmental Cues in the Heart edited by Marcus Schaub and Hughes Abriel. PMID:26896647

  17. Fibroproliferative effect of microRNA-21 in hypertrophic scar derived fibroblasts.

    PubMed

    Li, Guangzao; Zhou, Renpeng; Zhang, Qi; Jiang, Banghong; Wu, Qingkai; Wang, Chen

    2016-07-01

    Hypertrophic scar (HS) is a fibroproliferative disorder caused by abnormal wound healing, which is characterized by excessive deposition of extracellular matrix (ECM) secreted by fibroblasts. We previous have found that expression of microRNA-21(miR-21) was increased in tissues and fibroblasts of HS. However, the underlying molecular mechanism remains to be further elucidated. In this study, we identified the miR-21 was a marker for the phenotype of HS fibroblasts, as anti-miR-21 reduced expression of fibrosis markers such as Col1A1, Col3A1, Fn and α-SMA in fibroblasts and overexpression of miR-21 promoted fibroproliferative expression in fibroblasts. Furthermore, we also found that miR-21 promoted TGF-β1 induced fibroproliferative expression by repressing Smad7 expression in vitro. In addition, the miR-21 inhibitor inhibited the growth of hypertrophic scar tissue in vivo (nude mice experimental model). These results indicated that miR-21 was a critical regulator for HS formation and TGF- β1/miR-21/Smad7 pathway could be a useful therapeutic target for the treatment of HS.

  18. Sex dimorphisms of crossbridge cycling kinetics in transgenic hypertrophic cardiomyopathy mice.

    PubMed

    Birch, Camille L; Behunin, Samantha M; Lopez-Pier, Marissa A; Danilo, Christiane; Lipovka, Yulia; Saripalli, Chandra; Granzier, Henk; Konhilas, John P

    2016-07-01

    Familial hypertrophic cardiomyopathy (HCM) is a disease of the sarcomere and may lead to hypertrophic, dilated, restrictive, and/or arrhythmogenic cardiomyopathy, congestive heart failure, or sudden cardiac death. We hypothesized that hearts from transgenic HCM mice harboring a mutant myosin heavy chain increase the energetic cost of contraction in a sex-specific manner. To do this, we assessed Ca(2+) sensitivity of tension and crossbridge kinetics in demembranated cardiac trabeculas from male and female wild-type (WT) and HCM hearts at an early time point (2 mo of age). We found a significant effect of sex on Ca(2+) sensitivity such that male, but not female, HCM mice displayed a decrease in Ca(2+) sensitivity compared with WT counterparts. The HCM transgene and sex significantly impacted the rate of force redevelopment by a rapid release-restretch protocol and tension cost by the ATPase-tension relationship. In each of these measures, HCM male trabeculas displayed a gain-of-function when compared with WT counterparts. In addition, cardiac remodeling measured by echocardiography, histology, morphometry, and posttranslational modifications demonstrated sex- and HCM-specific effects. In conclusion, female and male HCM mice display sex dimorphic crossbridge kinetics accompanied by sex- and HCM-dependent cardiac remodeling at the morphometric, histological, and cellular level.

  19. 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.

  20. Early vs. late refeeding in acute infantile diarrhea.

    PubMed

    Gazala, E; Weitzman, S; Weizman, Z; Gross, J; Bearman, J E; Gorodischer, R

    1988-03-01

    A randomized ambulatory trial was performed to compare early (6-h) vs. late (24-h) refeeding in acute infantile diarrhea. Ninety infants with mild dehydration were enrolled in the study. Following an initial oral rehydration period (WHO formula), refeeding was introduced using a diet based on either breast milk or cow's milk. Early (n = 53) and late (n = 37) refeeding groups were similar in ethnic background, socioeconomic level, relevant past history, nutritional and clinical state, and stool pathogens. Infants were assessed upon their initial visit, at 24 and 48 h, and at 7 and 14 days thereafter for evaluation of weight, hydration state, stool frequency and need of hospitalization. No significant differences in the above parameters were observed between the two groups. Different patterns of refeeding (breast milk vs. cow's milk) in both early and late refeeding groups showed no significant differences in the features studied. Since the short-term clinical outcome following early refeeding in acute infantile diarrhea is not different from late refeeding, we suggest that early refeeding should be preferred, particularly in developing populations, in order to minimize the adverse nutritional effects of prolonged fasting during recurrent bouts of gastroenteritis. PMID:3286579

  1. Astrocytosis in infantile neuronal ceroid lipofuscinosis: friend or foe?

    PubMed

    Shyng, Charles; Sands, Mark S

    2014-10-01

    Infantile neuronal ceroid lipofuscinosis (INCL; infantile Batten disease) is an inherited paediatric neurodegenerative disease. INCL is caused by a deficiency in the lysosomal enzyme palmitoyl-protein thioesterase-1 (PPT1) and is thus classified as a lysosomal storage disease. Pathological examination of both human and murine INCL brains reveals progressive, widespread neuroinflammation. In fact, astrocyte activation appears to be the first histological sign of disease. However, the role of astrocytosis in INCL was poorly understood. The hallmark of astrocyte activation is the up-regulation of intermediate filaments, such as glial fibrillary acidic protein (GFAP) and vimentin. The role of astrocytosis in INCL was studied in a murine model lacking PPT1 and the intermediate filaments GFAP and vimentin (triple-knockout). This murine model of INCL with attenuated astrocytosis had an exacerbated pathological and clinical phenotype. The triple-knockout mouse had a significantly shortened lifespan, and accelerated cellular and humoural neuroinflammatory response compared with the parental PPT1(-/-) mouse. The data obtained from the triple-knockout mouse strongly suggest that astrocyte activation plays a beneficial role in early INCL disease progression. A more thorough understanding of the glial responses to lysosomal enzyme deficiencies and the accumulation of undergraded substrates will be crucial to developing effective therapeutics.

  2. Infantile fibrosarcoma of ethmoid sinus, misdiagnosed as an adenoid in a 5-year-old child.

    PubMed

    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

  3. Uighur medicine abnormal savda munzip (ASMq) suppresses expression of collagen and TGF-β1 with concomitant induce Smad7 in human hypertrophic scar fibroblasts

    PubMed Central

    Li, Nan; Kong, Menglong; Ma, Tao; Gao, Weicheng; Ma, Shaolin

    2015-01-01

    Background: Hypertrophic scar (HS) is a common dermal disease, for which numerous treatments are currently available but they do not always yield excellent therapeutic results. Hence, alternative strategy are needed. Recent basic and clinic research has shown that Uighur medicine abnormal savda munzip (ASMq) has anti-hypertrophic scar properties but its molecular mechanism is unknown. The aim of this study was to explore the effect of ASMq on TGF-β/Smads signaling in fibroblasts derived from hypertrophic scar. Purpose: To investigate the effect of ASMq on the TGF-β/Smads signaling pathway in hypertrophic scar fibroblasts (HSFs). Methods: Hypertrophic scar fibroblasts (HSFs) were isolated from human of hypertrophic scar and passaged to the 3~4 generation, which were treated with the different concentrations of ASMq. Cells treated with 5-Fu served as the positive control group. After treatment for 48 hours, expressions of Smad7, TGF-β1, type I and III collagen, were examined by immunocytochemistry, reverse transcription PCR and Western blotting, respectively. Results: ASMq markedly enhanced the expression of inhibitory Smad7, with suppression of type I and III collagen and TGF-β1. We observed that treatment of ASMq induced Smad7 to enter the cytoplasm from the nucleus of hypertrophic fibroblasts. Conclusions: ASMq inhibits scarring probably by enhancing the expression of inhibitory Smad7, and inhibiting TGF-β1, collagen expression, and is a potential treatment for scarring. PMID:26309506

  4. [Hypertrophic gastropathy similar to Ménétrier's disease in pigs slaughtered in accordance with regulations].

    PubMed

    Negro, M; Valenza, F; Galloni, M; Guarda, F

    1990-01-01

    The authors found during a study concerning the gastric pathology in pigs 2828 cases of hypertrophic gastropathy in 8408 regularly slaughtered animals. After a description of the morphologic patterns of the lesions, the authors make some pathogenetic hypothesis and conclude that this lesion is like Ménétrier's disease of man.

  5. In-the-bag decentration of an intraocular lens in a patient with a tendency to hypertrophic scarring

    PubMed Central

    Joshi, Rajesh Subhash

    2016-01-01

    Summary We report a case of rapid anterior lens capsular contraction leading to decentration of a hydrophilic acrylic lens with stiff haptics (Rayner design). To our knowledge, this is the first report to investigate early capsular contraction with folding of the haptic over the optic in a patient with a tendency toward hypertrophic scar formation. PMID:27330480

  6. An open-label pilot study to evaluate the efficacy and tolerability of a silicone gel in the treatment of hypertrophic scars using clinical and ultrasound assessments.

    PubMed

    Lacarrubba, Francesco; Patania, Lara; Perrotta, Rosario; Stracuzzi, Giorgio; Nasca, Maria Rita; Micali, Giuseppe

    2008-01-01

    Silicone gel sheets and intralesional corticosteroids are effective treatments for hypertrophic scars according to evidence studies. The aim of this study was to evaluate, both clinically and by ultrasound, the efficacy and tolerability of a topical self-drying silicone gel containing polysiloxane and silicone dioxide applied twice daily in eight hypertrophic scars. After 6 months all lesions showed evident clinical and/or ultrasound improvement, with a mean scar thickness reduction of 37% (range 20-54%). Although controlled trials in larger series of patients are necessary, our results suggest that the self-drying silicone gel may represent a safe and effective treatment for hypertrophic scars.

  7. 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

  8. Hypertrophic cardiomyopathy

    MedlinePlus

    ... permanent pacemaker to control the heartbeat An implanted defibrillator that recognizes life-threatening heart rhythms and sends an electrical pulse to stop them. Sometimes a defibrillator is placed, even if the patient has not ...

  9. 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.

  10. 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.

  11. Infantile refsum disease with enamel defects: a case report.

    PubMed

    Tran, Dorothy; Greenhill, William; Wilson, Stephen

    2011-01-01

    The purpose of this paper was to present the case of a 15-year-old female diagnosed with infantile Refsum disease (IRD) that presented with generalized enamel defects in the primary and permanent dentition. IRD is an inherited autosomal recessive disorder characterized by aberrant peroxisome function. IRD patients present with multiple clinical manifestations, including: retinitis pigmentosa; nystagmus; sensorineural hearing loss; mental and developmental delays; neuromotor defects; and cerebral ataxia. Craniofacial abnormalities reported include: high forehead; hypoplastic supraorbital ridges; epicanthal folds; midface hypoplasia; and large anterior fontanelle. At present, there is only one known report of dental anomaly associated with this syndrome. This represents the first known reported case in the pediatric dental literature.

  12. Conventional and advanced MR imaging in infantile Refsum disease.

    PubMed

    Kılıç, Mustafa; Karlı-Oğuz, Kader; Haliloğlu, Göknur; Topçu, Meral; Wanders, Ronald James; Coşkun, Turgay

    2015-01-01

    We report magnetic resonance (MR) imaging findings including diffusion-weighted imaging and proton MR spectroscopy findings in a patient with infantile Refsum disease. The initial diagnosis was made on the basis of history, clinical findings and biochemical studies. Bilateral and symmetrical involvement of the peritrigonal white matter, centrum semiovale, thalami, corpus callosum and corticospinal tracts as assessed by increased T2 signal was highly suggestive of a peroxisomal disorder. Facilitated diffusion was observed in diseased parenchyma. Long echo-time (TE: 270 ms) MRS showed decreased N-acetyl-aspartate/creatine and elevated choline/creatine and lactate; short echo-time MRS (TE: 30 ms) revealed increased myoinositol at 3.56 ppm and lipid peaks at 0.9 and 1.3 ppm. A major contribution to the differential diagnosis came from MR imaging and proton MRS, as discussed in this report.

  13. [Neurovegetative and hypothalamic syndromes in children with infantile cerebral palsy].

    PubMed

    Maslova, O I; Lebedev, B V

    1980-01-01

    An analysis of the neuropsychic and vegetative status of 108 children aged 3 months to 7 years suffering from infantile cerebral paralysis has shown that in a great part of the patients a neurovegetative or hypothalamic syndrome can be additionally specified. An analysis of the totality of the background vegetative characteristics shows that the effection of this division of the nervous system is of a mixed character. Different direction of the vegetative reactions, i.e. sympathetic or parasympathetic, can be noted in different forms of the paralysis. The neurovegetative syndrome can be discerned in children with a noticeable psychic defect, while the hypothalamic one in children with a good psychic development. PMID:7435028

  14. [The infantile sexual seduction: revolution and aftermath of Freud's theory].

    PubMed

    Figueroa, Gustavo C

    2014-01-01

    There is no question about the negative effects of child sexual abuse. Freud's seduction theory asserts that psychoneuroses in adults are caused by reactivation of forgotten recollections of gross sexual abuse (involving the genitals) that had taken place prior to the age of 8 to 10 years. His contribution consisted in the discovery of specific events, prior to puberty, which were indispensable to the formation of psychoneuroses. If an adult patient recalled an infantile sexual experience, Freud assumed the interference of a pervert: a child was sexually innocent unless it had been traumatized. But Freud's technique of clinical exploration had not attained adequate reliability and was not immune to prejudices. Freud himself dropped his mechanical, static theory that presupposed a single type of accidentally occurring trauma prior to puberty, allowing him to develop his new drive and fantasy theory.

  15. [Neuroanatomical, genetic and neurochemical aspects of infantile autism].

    PubMed

    Gerhant, Aneta; Olajossy, Marcin; Olajossy-Hilkesberger, Luiza

    2013-01-01

    Infantile autism is a neurodevelopmental disorder characterized by impairments in communication, reciprocal social interaction and restricted repetitive behaviors or interests. Although the cause of these disorders is not yet known, studies strongly suggest a genetic basis with a complex mode of inheritance. The etiopathogenetic processes of autism are extremely complex, which is reflected in the varying course and its symptomatology. Trajectories of brain development and volumes of its structures are aberrant in autistic patients. It is suggested that disturbances in sertotoninergic, gabaergic, glutaminergic, cholinergic and dopaminergic neurotransmission can be responsible for symptoms of autism as well as can disturb the development of the young brain. The objective of this article is to present the results of reasearch on neuroanatomical, neurochemical and genetic aspects of autism.

  16. Risk factors for infantile hypothermia in early neonatal life.

    PubMed

    Zabelle, J; Dagan, R; Neumann, L; Sofer, S

    1990-06-01

    Hypothermia in infancy is not uncommon among the low socioeconomic population in various parts of the world. It is prevalent in Israel and is associated with severe morbidity and mortality. We tried to identify neonates at risk among the population of the Negev district of Israel. Ninety-one infant hospitalized with infantile hypothermia (IH) during the years 1974 to 1981 were identified. The neonates belonged to two distinct ethnic groups, Bedouins and Jews, and were compared with 120 healthy controls of similar background. Our data show that premature infants and babies with low birth weight born during the cold season to young (inexperienced) mothers of lower socioeconomic strata and who sustained perinatal morbidity are at risk for IH. It is suggested that parents of infants at risk should be approached while the baby is till in the nursery, be advised about the possibility of hypothermia, and institute the appropriate preventive measures.

  17. An anatomical commentary on the concept of infantile oral sadism.

    PubMed

    Freeman, R; Freeman, T

    1992-01-01

    Although this paper is entitled 'An anatomical commentary on the concept of infantile oral sadism' it is also an attempt to examine hypotheses regarding the sources of oral sadism. Freud did not explicitly refer to an oral sadistic phase of development in early infancy, believing as he did that sadism was a component instinct. Abraham postulated that oral sadism arises when the teeth erupt and the jaw muscles function. Melanie Klein, however, came to claim that oral sadistic impulses operate from birth and arise from the infant's innate potential for fantasy. This hypothesis is akin to Freud's theory of primal fantasies. The anatomical record supports Abraham's theory of the source of oral sadism. PMID:1512124

  18. Suppression of ventricular fibrillation by electrical modification of the Purkinje system in hypertrophic cardiomyopathy.

    PubMed

    Yokoshiki, Hisashi; Mitsuyama, Hirofumi; Watanabe, Masaya; Mizukami, Kazuya; Tsutsui, Hiroyuki

    2014-09-01

    A 56-year-old man in hypertrophic cardiomyopathy had an electrical storm caused by ventricular fibrillation (VF). Mapping during the initiation of the VF triggered by a premature ventricular contraction (PVC1), with right bundle branch block (RBBB)-like morphology and superior axis, demonstrated a prominent Purkinje-muscle junction (PMJ) delay at the distal portion of the left posterior fascicle. Delivery of radiofrequency (RF) energy to this area abolished the VF triggered by the PVC1. However, VF emerged by triggering another PVC (PVC2) with RBBB-like morphology and inferior axis. Similarly, the initiation of VF was associated with the PMJ delay at the peripheral left anterior fascicle, where RF delivery completely suppressed the VF. The PMJ delay and subsequent Purkinje-muscle reentry-like activity could be essential for the initiation of the Purkinje-related VF.

  19. A polarized multispectral imaging system for quantitative assessment of hypertrophic scars

    PubMed Central

    Ghassemi, Pejhman; Travis, Taryn E.; Moffatt, Lauren T.; Shupp, Jeffrey W.; Ramella-Roman, Jessica C.

    2014-01-01

    Hypertrophic scars (HTS) are a pathologic reaction of the skin and soft tissue to burn or other traumatic injury. Scar tissue can cause patients serious functional and cosmetic issues. Scar management strategies, specifically scar assessment techniques, are vital to improve clinical outcome. To date, no entirely objective method for scar assessment has been embraced by the medical community. In this study, we introduce for the first time, a novel polarized multispectral imaging system combining out-of-plane Stokes polarimetry and Spatial Frequency Domain Imaging (SFDI). This imaging system enables us to assess the pathophysiology (hemoglobin, blood oxygenation, water, and melanin) and structural features (cellularity and roughness) of HTS. To apply the proposed technique in an in vivo experiment, dermal wounds were created in a porcine model and allowed to form into scars. The developed scars were then measured at various time points using the imaging system. Results showed a good agreement with clinical Vancouver Scar Scale assessment and histological examinations. PMID:25360354

  20. [Recommendations for the prevention and therapy of hypertrophic scars and keloids].

    PubMed

    Gauglitz, G G; Kunte, C

    2011-05-01

    Hypertrophic scars and keloids form due to aberrations in the physiologic wound healing cascade characterized by greater and more sustained ECM deposition. Both entities are frequently associated with pain, pruritus and contractures, and are thus significantly affecting the patient's quality of life. Genetic susceptibility, specific anatomic locations, prolonged inflammation and delayed epithelialization significantly contribute to excessive scar formation. However, despite intensive scientific work in this field the complex mechanisms underlying the processes of scarring and wound contraction remain poorly understood and most therapeutic approaches are clinically unsatisfactory. Nevertheless, based on a rising number of clinical studies next to well-known therapeutic concepts including cryotherapy and intralesional triamcinolone, recent techniques extend the spectrum for treating excessive scars. Nonetheless, prevention of pathologic scarring is undoubtedly more effective than to later attempts to treat it. PMID:21468729

  1. 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

  2. [New strategies for assessing the risk of sudden cardiac death in hypertrophic cardiomyopathy].

    PubMed

    Jaworski, Krzysztof; Możeńska, Olga; Kosior, Dariusz A

    2016-07-01

    Hypertrophic cardiomyopathy (HCM) is characterized by a primarily increased ventricular wall thickness, usually caused by the mutations in genes encoding sarcomere proteins. Thanks to the growing awareness in the medical community as well as advances in diagnostic techniques HCM can be diagnosed at earlier stages than ever before. However, in some cases the first symptom of this disease is a sudden cardiac death (SCD) and diagnosis remains unknown until post-mortem examination. Implantation of a cardioverterdefibrillator (ICD) provides the most effective method of SCD prevention. Nevertheless, due to a number of risks associated with surgery as well as the possession of such devices, predictive factors of serious ventricular arrhythmia in individual patients have been sought for many years. The aim of this review is to present the current strategies of risk assessment and prevention of SCD in patients with HCM. PMID:27590646

  3. [New strategies for assessing the risk of sudden cardiac death in hypertrophic cardiomyopathy].

    PubMed

    Jaworski, Krzysztof; Możeńska, Olga; Kosior, Dariusz A

    2016-08-01

    Hypertrophic cardiomyopathy (HCM) is characterized by a primarily increased ventricular wall thickness, usually caused by the mutations in genes encoding sarcomere proteins. Thanks to the growing awareness in the medical community as well as advances in diagnostic techniques HCM can be diagnosed at earlier stages than ever before. However, in some cases the first symptom of this disease is a sudden cardiac death (SCD) and diagnosis remains unknown until post-mortem examination. Implantation of a cardioverterdefibrillator (ICD) provides the most effective method of SCD prevention. Nevertheless, due to a number of risks associated with surgery as well as the possession of such devices, predictive factors of serious ventricular arrhythmia in individual patients have been sought for many years. The aim of this review is to present the current strategies of risk assessment and prevention of SCD in patients with HCM. PMID:27591441

  4. 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.

  5. Findings of Cardiac Magnetic Resonance Imaging in Hypertrophic Cardiomyopathy after 16 Years

    PubMed Central

    Kim, Gee-Hee; Jang, Bo-Hyun; Lee, Hyeong-Han; Hong, Solim; Eum, Sang-Hoon; Jeon, Howook; Moon, Donggyu

    2016-01-01

    A 58-year-old man had been diagnosed with non-obstructive hypertrophic cardiomyopathy (HCMP) according to echocardiography findings 16 years ago. Echocardiography showed ischemic cardiomyopathy (CMP)-like features with decreased systolic function but a non-dilated chamber. Coronary angiography was performed but showed a normal coronary artery. Cardiac magnetic resonance imaging (MRI) revealed multifocal transmural and subepicardial delayed-enhancing areas at the anteroseptal, septal, and inferoseptal left ventricular (LV) wall, and wall thinning and decreased motion of the anteroseptal LV wall. Findings of ischemic CMP-like features by echocardiography suggested microvascular dysfunction. This late stage of HCMP carries a high risk of sudden death. Cardiac MRI evaluation may be necessary in cases of ischemic CMP-like features in HCMP. In this case, the diagnosis of end-stage HCMP with microvascular dysfunction was confirmed by using cardiac MRI after a follow-up period of more than 16 years. PMID:27721955

  6. 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

  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. Primary hypertrophic osteoarthropathy (incomplete form) in young adults: a case report and review of literature

    PubMed Central

    Nayak, Hemanta K; Rajkumar, Vangipuram Deepak; Kumar, Naresh; Kar, Premashis

    2012-01-01

    Hypertrophic osteoarthropathy is characterised by digital clubbing and periosteal reaction of long bones. Most cases are associated with malignancy or other conditions such as congenital heart disease, liver cirrhosis, pulmonary fibrosis, biliary atresia and inflammatory bowel diseases. We report a middle-aged man found to have 15-year history of clubbing of the fingers and toes on his routine check-up for dyspepsia. Skiagram of hand joints showed periosteal apposition without any periosteal reaction of long bones. The search for a secondary cause of clubbing remained negative. The primary or idiopathic form is rare and has a good prognosis and has to be differentiated from secondary form. He was eradicated successfully with Pylori kit for his antral predominant Helicobacter-induced gastritis. PMID:23242097

  9. Apical Hypertrophic Cardiomyopathy: The Ace-of-Spades as the Disease Card

    PubMed Central

    Diaconu, Camelia C.; Dumitru, Nicoleta; Fruntelata, Ana G.; Lacau, Smarandita; Bartos, Daniela

    2015-01-01

    Apical cardiac hypertrophy (Yamaguchi syndrome) is a relatively rare form of hypertrophic cardiomyopathy. A 67-year-old woman presented with exertional angina and moderate dyspnea. Her electrocardiogram showed sinus rhythm, flattened T waves in the limb leads and a strain pattern in the V2-V6 leads. Echocardiographic examination showed that apical wall thickness of the left ventricle (LV) was 19 mm. Coronary angiography was normal, but left ventriculography revealed a spade-like shaped LV cavity, typical for apical cardiac hypertrophy. The diagnostic criteria for apical cardiac hypertrophy are: 1) asymmetric LV hypertrophy - predominantly at the apex of the ventricle; 2) LV wall thickness of 15 mm or more during diastole; and 3) apical to posterior wall thickness ratio of 1.5 or more determined by 2-dimensional echocardiography or cardiac magnetic resonance imaging. Although relatively rare, Yamaguchi syndrome must enter into the differential diagnosis of patients presenting with exertional angina pectoris. PMID:27122852

  10. Cardiac Magnetic Resonance and Computed Tomography in Hypertrophic Cardiomyopathy: an Update.

    PubMed

    Oliveira, Diogo Costa Leandro de; Assunção, Fernanda Boldrini; Santos, Alair Agusto Sarmet Moreira Damas Dos; Nacif, Marcelo Souto

    2016-08-01

    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

  11. What is really a nonobstructive hypertrophic cardiomyopathy? The importance of orthostatic factor in exercise echocardiography.

    PubMed

    Cotrim, Carlos; Almeida, Ana Rita; Lopes, Luís; Fazendas, Paula; João, Isabel; Pereira, Hélder

    2011-01-01

    The authors report the case of a 23-year-old girl with nonobstructive hypertrophic cardiomyopathy evaluated by resting echocardiography. The patient complained of syncope after playing basketball. The patient was submitted to treadmill exercise echocardiogram, and she exercised for 9 minutes in standard Bruce protocol. The left ventricular outflow gradient did not occur at peak workload; however she developed intraventricular gradient greater than 100 mmHg after exercise in orthostatic position. There was fall in arterial pressure, and the patient was then put in supine position. The authors suggest the possible role of exercise stress echo in symptomatic patients with no significant gradient at baseline, as well as maintenance in orthostatic position after exercise, as an important stress factor. This can disclose the occurrence of left ventricular outflow tract obstruction that should not be detected in other way and has potential relevance in the patient's symptoms understanding.

  12. 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

  13. 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.

  14. 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.

  15. Alcohol septal ablation in obstructive acromegalic hypertrophic cardiomyopathy - a first case report.

    PubMed

    Viveiros Monteiro, André; Fiarresga, António; Cacela, Duarte; de Sousa, Lídia; Ramos, Ruben; Galrinho, Ana; Branco, Luísa; Cruz Ferreira, Rui

    2016-09-01

    Acromegaly is a rare disease, mostly caused by a growth hormone (GH)-secreting benign pituitary tumor, with an increased production of GH and insulin-like growth factor 1 (IGF-1). Cardiovascular complications are common and are associated with cardiomyocyte apoptosis and concentric cardiac hypertrophy. Suppression of GH and IGF-1 appears to improve cardiac function only in the short term, with little or no decrease in left ventricular mass or improvement in cardiac function after prolonged treatment. Alcohol septal ablation (ASA) has emerged as a minimally invasive alternative to septal myectomy, with significant improvement in symptoms, gradients and left ventricular remodeling. In this report, we describe the case of a 73-year-old woman with acromegaly due to a pituitary adenoma diagnosed and treated surgically at the age of 38 but with recurrence and reoperation at the age of 50. She was referred to our cardiology department due to a three-month history of progressively worsening exercise-induced dyspnea and orthopnea under optimal medical therapy. Echocardiography and magnetic resonance imaging revealed severe basal hypertrophy of the interventricular septum (19 mm), dynamic left ventricular outflow tract obstruction with a gradient of 70 mmHg at rest and 120 mmHg with Valsalva maneuver, and systolic anterior movement (SAM). Genetic testing excluded the most frequent forms of familial hypertrophic cardiomyopathy. ASA was performed with injection of 2 cc of alcohol in the first septal branch of the left coronary artery, without complications. At one-year reassessment, significant clinical and echocardiographic improvement was noted, with disappearance of SAM. To our knowledge, there have been no previously reported cases of ASA in hypertrophic cardiomyopathy due to acromegaly. We report a case of successful ASA in acromegalic cardiomyopathy. PMID:27503591

  16. Rising CO2 levels will intensify phytoplankton blooms in eutrophic and hypertrophic lakes.

    PubMed

    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

  17. Alcohol septal ablation in obstructive acromegalic hypertrophic cardiomyopathy - a first case report.

    PubMed

    Viveiros Monteiro, André; Fiarresga, António; Cacela, Duarte; de Sousa, Lídia; Ramos, Ruben; Galrinho, Ana; Branco, Luísa; Cruz Ferreira, Rui

    2016-09-01

    Acromegaly is a rare disease, mostly caused by a growth hormone (GH)-secreting benign pituitary tumor, with an increased production of GH and insulin-like growth factor 1 (IGF-1). Cardiovascular complications are common and are associated with cardiomyocyte apoptosis and concentric cardiac hypertrophy. Suppression of GH and IGF-1 appears to improve cardiac function only in the short term, with little or no decrease in left ventricular mass or improvement in cardiac function after prolonged treatment. Alcohol septal ablation (ASA) has emerged as a minimally invasive alternative to septal myectomy, with significant improvement in symptoms, gradients and left ventricular remodeling. In this report, we describe the case of a 73-year-old woman with acromegaly due to a pituitary adenoma diagnosed and treated surgically at the age of 38 but with recurrence and reoperation at the age of 50. She was referred to our cardiology department due to a three-month history of progressively worsening exercise-induced dyspnea and orthopnea under optimal medical therapy. Echocardiography and magnetic resonance imaging revealed severe basal hypertrophy of the interventricular septum (19 mm), dynamic left ventricular outflow tract obstruction with a gradient of 70 mmHg at rest and 120 mmHg with Valsalva maneuver, and systolic anterior movement (SAM). Genetic testing excluded the most frequent forms of familial hypertrophic cardiomyopathy. ASA was performed with injection of 2 cc of alcohol in the first septal branch of the left coronary artery, without complications. At one-year reassessment, significant clinical and echocardiographic improvement was noted, with disappearance of SAM. To our knowledge, there have been no previously reported cases of ASA in hypertrophic cardiomyopathy due to acromegaly. We report a case of successful ASA in acromegalic cardiomyopathy.

  18. An In-Situ Forming Skin Substitute Improves Healing Outcome in a Hypertrophic Scar Model

    PubMed Central

    Hartwell, Ryan; Poormasjedi-Meibod, Malihe-Sadat; Chavez-Munoz, Claudia; Jalili, Reza B.; Hossenini-Tabatabaei, Azadeh

    2015-01-01

    Wound repair requires a sequential series of biological events that begins with the deposition of a temporary scaffold within which cells can repair the skin. Without a scaffold, repair is essentially impossible. Aberrant wound healing, such as hypertrophic scarring or nonhealing, has a tremendous burden on healthcare and quality of life. Timely wound closure dramatically reduces the risk of infection and scarring. Cellular skin substitutes are opportune to meet this need. Our goal was to create an in-situ forming scaffold that can be easily combined with cells to rapidly form a dermal substitute within the wound bed. In this study, we evaluated the application of a polyvinyl alcohol-collagen-glycosaminoglycan-based biohybrid scaffold system in full-thickness wounds on a rabbit fibrotic ear model. Punch wounds (6 mm) were either untreated or filled with an acellular scaffold, a scaffold containing xenofibroblasts, or a scaffold containing xenofibroblasts expressing indoleamine 2,3-dioxygenase (IDO). Results demonstrated that (1) both acellular and IDO-expressing fibroblast in-situ forming scaffolds significantly reduced scar elevation index (1.24±0.05 and 1.25±0.03; p<0.05) and improved overall healing quality compared with xenofibroblast scaffolds and untreated wounds; (2) IDO-expressing fibroblast scaffolds significantly reduced T-cell infiltration into the scaffold-engrafted area (p<0.05); and (3) both IDO-expressing and acellular in-situ forming scaffolds demonstrated increased vessel-like and nerve-like structures (p<0.05). The results demonstrated that the use of the in-situ forming scaffold, and even more so when delivering IDO-expressing cells, improved healing outcome in full-thickness hypertrophic rabbit ear wounds. PMID:25412924

  19. Pressure-derived indices of left ventricular isovolumic relaxation in patients with hypertrophic cardiomyopathy.

    PubMed Central

    Thompson, D S; Wilmshurst, P; Juul, S M; Waldron, C B; Jenkins, B S; Coltart, D J; Webb-Peploe, M M

    1983-01-01

    High fidelity measurements of left ventricular pressure were made at increasing pacing rates in 21 patients with hypertrophic cardiomyopathy and a control group of 11 patients investigated for chest pain who proved to have normal hearts. In both groups the fall in pressure during isovolumic relaxation from the point of min dp/dt approximated closely to a monoexponential, and could be described by a time constant and asymptote. The time constant shortened and the asymptote increased as heart rate rose in both groups. The time constant was longer and min dp/dt less in the cardiomyopathy group than controls at all heart rates. In the cardiomyopathy patients min dp/dt, but not the time constant, was related to systolic pressure. During pacing, eight cardiomyopathy patients developed metabolic evidence of myocardial ischaemia, but indices of relaxation did not differ between these eight and the other 13 either at basal heart rate or the highest pacing rate. In 10 cardiomyopathy patients measurements were repeated at comparable pacing rates after propranolol (0.2 mg/kg). Left ventricular end-diastolic pressure and indices of contractility decreased after the drug, but the time constant did not change. Eight patients received verapamil (20 mg) after which there were substantial reductions in systolic pressure and contractility. Min dp/dt decreased in proportion to systolic pressure, but the time constant was unchanged. At the highest pacing rate before drug administration three patients had abnormal lactate extraction which was corrected by either propranolol (one patient) or verapamil (two patients). Despite abolition of metabolic evidence of ischaemia, relaxation did not improve. It is concluded that abnormal isovolumic relaxation is common in patients with hypertrophic cardiomyopathy, but its severity correlates poorly with other features of the disease. Abnormal relaxation is not the result of ischaemia, and pressure derived indices of relaxation do not improve after

  20. Pulmonary infantile hemangioma presenting as a mass in a premature male infant: a case report focusing on pathological features.

    PubMed

    Siaghani, Parwiz J; Chavez, Claire; Anselmo, Dean M; Shane, Lisa

    2015-01-01

    Infantile hemangiomas are the most common benign neoplasm of infancy, with most occurring in the head and neck region. Predisposing factors include prematurity, low birth weight, multiple gestations, advanced maternal age, and chorionic villous sampling. In addition, white women, particularly those with a family history, are also at a higher risk. However, pulmonary infantile hemangiomas are exceedingly rare, with only a few case reports in the literature. Infantile hemangiomas should be considered in the differential diagnosis of a pulmonary mass in the early pediatric population. We present a case of pulmonary infantile hemangioma in a premature male infant successfully managed by surgical excision, with an emphasis on the pathogenesis and histologic features.

  1. Development of a Best Evidence Statement for the Use of Pressure Therapy for Management of Hypertrophic Scarring.

    PubMed

    Sharp, Patricia A; Pan, Brian; Yakuboff, Kevin P; Rothchild, Dawn

    2016-01-01

    Pressure therapy has been considered standard, first-line intervention for the treatment of hypertrophic scars since its introduction in the 1960s. Although widely used, this scar management technique has historically been based on a wide array of anecdotal evidence as opposed to strong scientific support. Evidence has become more prevalent in recent years, necessitating a synthesis to develop an evidence-based clinical guideline. The clinical question was asked, "Among individuals with or at risk to develop active hypertrophic scars, does treatment with pressure therapy improve aesthetic and functional outcomes?" An evidence-based practice project was completed with aims to synthesize relevant literature to determine recommendations for the use of pressure therapy in individuals at risk for hypertrophic scars. A systematic search of the literature was conducted for the dates January 1950 to February 2014 of the following databases: MEDLINE, CINAHL, Cochrane Database for Systematic Reviews, Burntherapist.com, Cochrane Libraries, Ebsco, Google Scholar, OT Seeker, Ovid, MedLine, PEDro.org, Pubmed.gov, Pubmed Clinical Queries, and hand search of relevant articles through use of reference lists. Search terms included scar, hypertroph*, pressure therapy, compression therapy, pressure garment, burn, scald, trauma as well as MeSH terms cicatrix and hypertrophic. Articles were reviewed in terms of ability to answer the clinical question as well as strength of conclusions. A total of 45 articles were found and critiqued, 28 of which were relevant to the clinical question. Evidence strength ranged from level 1 to level 5. Results from the studies were synthesized to create clinical recommendations to guide treatment. Based on best available evidence, it is recommended that pressure therapy is utilized to decrease scar height and erythema that it is used for grafts and wounds requiring 14 to 21 days to heal, for 23 hours/day for 12 months, fit to achieve 20 to 30 mm Hg of

  2. Development of a Best Evidence Statement for the Use of Pressure Therapy for Management of Hypertrophic Scarring.

    PubMed

    Sharp, Patricia A; Pan, Brian; Yakuboff, Kevin P; Rothchild, Dawn

    2016-01-01

    Pressure therapy has been considered standard, first-line intervention for the treatment of hypertrophic scars since its introduction in the 1960s. Although widely used, this scar management technique has historically been based on a wide array of anecdotal evidence as opposed to strong scientific support. Evidence has become more prevalent in recent years, necessitating a synthesis to develop an evidence-based clinical guideline. The clinical question was asked, "Among individuals with or at risk to develop active hypertrophic scars, does treatment with pressure therapy improve aesthetic and functional outcomes?" An evidence-based practice project was completed with aims to synthesize relevant literature to determine recommendations for the use of pressure therapy in individuals at risk for hypertrophic scars. A systematic search of the literature was conducted for the dates January 1950 to February 2014 of the following databases: MEDLINE, CINAHL, Cochrane Database for Systematic Reviews, Burntherapist.com, Cochrane Libraries, Ebsco, Google Scholar, OT Seeker, Ovid, MedLine, PEDro.org, Pubmed.gov, Pubmed Clinical Queries, and hand search of relevant articles through use of reference lists. Search terms included scar, hypertroph*, pressure therapy, compression therapy, pressure garment, burn, scald, trauma as well as MeSH terms cicatrix and hypertrophic. Articles were reviewed in terms of ability to answer the clinical question as well as strength of conclusions. A total of 45 articles were found and critiqued, 28 of which were relevant to the clinical question. Evidence strength ranged from level 1 to level 5. Results from the studies were synthesized to create clinical recommendations to guide treatment. Based on best available evidence, it is recommended that pressure therapy is utilized to decrease scar height and erythema that it is used for grafts and wounds requiring 14 to 21 days to heal, for 23 hours/day for 12 months, fit to achieve 20 to 30 mm Hg of

  3. [Implantation of a dual chamber pacemaker-defibrillator (DDD-ICD) in a patient with hypertrophic obstructive cardiomyopathy].

    PubMed

    Neuberger, H R; Mewis, C; Dörnberger, V; Bosch, R F; Kühlkamp, V

    1999-07-01

    A 70-year-old woman with severely symptomatic hypertrophic obstructive cardiomyopathy was unresponsive to drug treatment. She had recurrent ventricular tachyarrhythmias and syncope and was at high risk for sudden death; a dual chamber pacemaker defibrillator (DDD-ICD) was implanted. Her initial left ventricular outflow tract gradient was 80 mm Hg and fell to 40 mm Hg during dual-chamber pacing at an atrial ventricular delay of 140 ms. In the follow-up over six months she was asymptomatic with respect to angina pectoris; ventricular tachycardias could be successfully terminated by antitachycardia pacing or by shocks. A dual chamber pacemaker defibrillator is an important therapeutic option for patients with symptomatic hypertrophic obstructive cardiomyopathy and ventricular tachyarrhythmias.

  4. 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.

  5. [Torsion of the right upper lobe due to primary lung cancer with pulmonary hypertrophic osteoarthropathy; report of a case].

    PubMed

    Matsukura, T; Hanawa, T; Kuwabara, M; Motoishi, M; Fujimoto, T; Okazaki, T; Yamashita, N; Matsubara, Y

    2006-12-01

    A 61-year-old woman was admitted due to severe coughing. Chest X-ray revealed a mass in the right lower lung field at standing position and in the right upper lung field at supine position. A position of the mass changed with change in her posture because of lobar torsion. Bronchoscopic biopsy of the polypoid tumor obstructing the right upper bronchus revealed adenocarcinoma. She had hypertrophic osteoarthropathy simultaneously. Right pneumonectomy was performed. Postoperative course has been uneventful for 3 years.

  6. Autonomous and Non-autonomous Defects Underlie Hypertrophic Cardiomyopathy in BRAF-Mutant hiPSC-Derived Cardiomyocytes.

    PubMed

    Josowitz, Rebecca; Mulero-Navarro, Sonia; Rodriguez, Nelson A; Falce, Christine; Cohen, Ninette; Ullian, Erik M; Weiss, Lauren A; Rauen, Katherine A; Sobie, Eric A; Gelb, Bruce D

    2016-09-13

    Germline mutations in BRAF cause cardio-facio-cutaneous syndrome (CFCS), whereby 40% of patients develop hypertrophic cardiomyopathy (HCM). As the role of the RAS/MAPK pathway in HCM pathogenesis is unclear, we generated a human induced pluripotent stem cell (hiPSC) model for CFCS from three patients with activating BRAF mutations. By cell sorting for SIRPα and CD90, we generated a method to examine hiPSC-derived cell type-specific phenotypes and cellular interactions underpinning HCM. BRAF-mutant SIRPα(+)/CD90(-) cardiomyocytes displayed cellular hypertrophy, pro-hypertrophic gene expression, and intrinsic calcium-handling defects. BRAF-mutant SIRPα(-)/CD90(+) cells, which were fibroblast-like, exhibited a pro-fibrotic phenotype and partially modulated cardiomyocyte hypertrophy through transforming growth factor β (TGFβ) paracrine signaling. Inhibition of TGFβ or RAS/MAPK signaling rescued the hypertrophic phenotype. Thus, cell autonomous and non-autonomous defects underlie HCM due to BRAF mutations. TGFβ inhibition may be a useful therapeutic option for patients with HCM due to RASopathies or other etiologies. PMID:27569062

  7. Ménétrier's disease-like hypertrophic gastritis in two red-capped mangabeys (Cercocebus torquatus).

    PubMed

    Emerson, Jessica A; Adkesson, Michael J; Colegrove, Kathleen M; Burdick, Stacy K; Langan, Jennifer N

    2014-01-01

    Chronic lymphoplasmacytic gastritis in two red-capped mangabeys (Cercocebus torquatus) at a zoological facility progressed to severe hypertrophic gastropathy similar to Ménétrier's disease that affects humans. Clinical signs included emesis, diarrhea, hunched posture consistent with abdominal pain, anemia, and hypoproteinemia. Large gastric masses were present and in one case created a gastric outflow obstruction. Both cases were positive for simian immunodeficiency virus and Helicobacter spp. were variably isolated, although the association with the hypertrophic gastropathy is unclear. Medical treatment had varying success and included sucralfate, H2 receptor antagonists, proton pump inhibitors, diet manipulations, and antibiotic therapies targeting Helicobacter spp. Surgical resection of a large portion of the stomach resulted in some palliative improvement in one case. Overall, this disease presented many challenges regarding identification, confirmation of diagnosis, and clinical management. Both aggressive medical and surgical treatments were unrewarding for long-term management of hypertrophic gastropathy in this pair of red-capped mangabeys and resulted in a poor prognosis in these cases. PMID:24625015

  8. Abnormalities in the basement membrane structure promote basal keratinocytes in the epidermis of hypertrophic scars to adopt a proliferative phenotype.

    PubMed

    Yang, Shaowei; Sun, Yexiao; Geng, Zhijun; Ma, Kui; Sun, Xiaoyan; Fu, Xiaobing

    2016-05-01

    The majority of studies on scar formation have mainly focused on the dermis and little is known of the involvement of the epidermis. Previous research has demonstrated that the scar tissue-derived keratinocytes are different from normal cells at both the genetic and cell biological levels; however, the mechanisms responsible for the fundamental abnormalities in keratinocytes during scar development remain elusive. For this purpose, in this study, we used normal, wound edge and hypertrophic scar tissue to examine the morphological changes which occur during epidermal regeneration as part of the wound healing process and found that the histological structure of hypertrophic scar tissues differed from that of normal skin, with a significant increase in epidermal thickness. Notably, staining of the basement membrane (BM) appeared to be absent in the scar tissues. Moreover, immunofluorescence staining for cytokeratin (CK)10, CK14, CK5, CK19 and integrin-β1 indicated the differential expression of cell markers in the epidermal keratinocytes among the normal, wound edge and hypertrophic scar tissues, which corresponded with the altered BM structures. By using a panel of proteins associated with BM components, we validated our hypothesis that the BM plays a significant role in regulating the cell fate decision of epidermal keratinocytes during skin wound healing. Alterations in the structure of the BM promote basal keratinocytes to adopt a proliferative phenotype both in vivo and in vitro.

  9. A novel mutation in the SLCO2A1 gene in a Chinese family with primary hypertrophic osteoarthropathy.

    PubMed

    Zhang, Zeng; He, Jin-Wei; Fu, Wen-Zhen; Zhang, Chang-Qing; Zhang, Zhen-Lin

    2013-05-25

    Primary hypertrophic osteoarthropathy (PHO) is a rare monogenetic disease that closely mimics hypertrophic osteoarthropathy secondary to pulmonary or other pathology. The study of PHO provides an opportunity to understand both the pathogenesis of hypertrophic osteoarthropathy and the functions of the underlying genes. PHO is characterized by digital clubbing, periostosis and pachydermia. Two genes are known to be related to PHO: SLCO2A1 and HPGD. Here, we identified a recurrent heterozygous guanine-to-adenine transition at the invariant +1 position of the donor site of intron 7 (c.940+1G>A) and a novel heterozygous missense mutation p.Asn534Lys (c.1602C>A) in exon 11 of SLCO2A1 in a Chinese young man with PHO. Identification of a novel genotype in PHO will provide clues to the phenotype-genotype relations and may assist not only in the clinical diagnosis of PHO but also in the interpretation of genetic information used for prenatal diagnosis and genetic counseling. PMID:23531451

  10. Role of silicone derivative plus onion extract gel in presternal hypertrophic scar protection: a prospective randomized, double blinded, controlled trial.

    PubMed

    Jenwitheesuk, Kamonwan; Surakunprapha, Palakorn; Jenwitheesuk, Kriangsak; Kuptarnond, Chusak; Prathanee, Sompop; Intanoo, Worawit

    2012-08-01

    Use of silicone derivative and onion extract had been reported in the prevention of hypertrophic scarring. Our experience showed the preventive use of silicone derivative plus onion extract gel on hypertrophic scars after median sternotomy. In a randomized, double blinded, placebo-controlled study, 60 patients after median sternotomy incisions were separated into two groups. All patients were treated either with silicone derivative plus onion extract gel (Cybele(®) scagel) or placebo gel twice daily for a total treatment period of 12 weeks. During each visit, pain and itching scores were graded by the patients and scar characteristics were observed by surgeons using the Vancouver scar scale. Pain and itch score values from patients' who applied silicone derivative plus onion extract gel was less than another group (P < 0·05). Pigmentation was significantly different between two groups (P < 0·05) and the reduction of scores on vascularity, pliability, height in treated group was not superior to the untreated group. No adverse events were reported by any of the patients. A silicone derivative plus onion extract gel is safe and effective for the preventing the hypertrophic scarring after median sternotomy. PMID:22168750

  11. Neoadjuvant Chemotherapy for Facilitating Surgical Resection of Infantile Massive Intracranial Immature Teratoma.

    PubMed

    Kitahara, Takahiro; Tsuji, Yoshihito; Shirase, Tomoyuki; Yukawa, Hiroyuki; Takeichi, Yasuhiro; Yamazoe, Naohiro

    2016-01-01

    Immature teratoma (IMT) is the most frequent histological subtype of infantile intracranial teratoma, the most common congenital brain tumor. IMT contains incompletely differentiated components resembling fetal tissues. Infantile intracranial IMT has a dismal prognosis, because it is often inoperable due to its massive size and high vascularity. Neoadjuvant chemotherapy has been shown to be effective in decreasing tumor volume and vascularity to facilitate surgical resection in other types of infantile brain tumors. However, only one recent case report described the effectiveness of neoadjuvant chemotherapy for infantile intracranial IMT in the literature, even though it is common entity with a poor prognosis in infants. Here, we describe the case of a 2-month-old male infant with a very large intracranial IMT. Maximal surgical resection was first attempted but was unsuccessful because of severe intraoperative hemorrhage. Neoadjuvant carboplatin and etoposide (CARE) chemotherapy was then administered with the aim of shrinking and devascularizing the tumor. After neoadjuvant chemotherapy, tumor size did not decrease, but intraoperative blood loss significantly decreased and near-total resection was achieved by the second and third surgery. The patient underwent adjuvant CARE chemotherapy and has been alive for 3 years after surgery without tumor regrowth. Even when neoadjuvant chemotherapy does not decrease tumor volume of infantile intracranial IMT, surgical resection should be tried because chemotherapy can facilitate surgical resection and improve clinical outcome by reducing tumor vascularity. PMID:27039944

  12. 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.

  13. New optional photodynamic therapy laser wavelength for infantile port wine stains: 457 nm

    NASA Astrophysics Data System (ADS)

    Wang, Ying; Zuo, Zhaohui; Gu, Ying; Huang, Naiyan; Chen, Rong; Li, Buhong; Qiu, Haixia; Zeng, Jing; Zhu, Jianguo; Liang, Jie

    2012-06-01

    To expand the optional laser wavelengths of photodynamic therapy (PDT) for port wine stain (PWS), the feasibility of applying a 457 nm laser to the PDT for infantile PWS was analyzed by mathematical simulation and was validated by clinical experiment. Singlet oxygen yield of 457 nm PDT or 532 nm PDT in an infantile PWS model and an adult PWS model was theoretically simulated. Fifteen PWS patients (14 infants and 1 adult) with 40 spots were treated with 457 nm (20 spots) and 532 nm (20 spots), respectively, in two PDT courses. Simulation results showed that under the same power density and irradiation time, singlet oxygen yield of 457 nm PDT and 532 nm PDT are similar in infantile PWS vessels. Yet, in adult PWS vessels, singlet oxygen yield of 457 nm PDT is lower than 532 nm PDT. Clinical outcomes showed that no statistic difference existed between 457 nm PDT and 532 nm PDT for infantile PWS. The result of this study suggested that 457 nm wavelength laser has the potential to be applied in PDT for infantile PWS.

  14. Evaluation of clinical course and neurocognition in children with self-limited infantile epilepsy in a Turkish cohort study.

    PubMed

    Bozaykut, Abdulkadir; Aksoy, Halil Ural; Sezer, Rabia Gönül; Polat, Muzaffer

    2015-03-01

    The outcome of children with self-limited infantile epilepsy was reported to be normal psychosocial and cognitive development as a characteristic criterion. We aimed to investigate the clinical course and neurocognitive outcome in children with self-limited infantile epilepsy in a Turkish cohort. The clinical course, electroencephalographic (EEG) characteristics, neuroimaging, treatment, and outcome of children with self-limited infantile epilepsy were retrospectively analyzed. All infants were reevaluated with the Denver Developmental Screening Test in addition to neurologic examination. Of 44 patients, self-limited familial infantile epilepsy was diagnosed in 8 infants (18.2%) and self-limited nonfamilial infantile epilepsy in 28 (63.6%). Interictal EEGs and neurologic examinations were normal in all cases. Fine motor and gross motor skills, language, adaptive personal/social skills were near-normal in all patients with self-limited familial infantile epilepsy. Delay in language parameters was observed in 2 infants with self-limited nonfamilial infantile epilepsy. Language skills should be thoroughly evaluated with detailed neurocognitive screening tests in patients with self-limited infantile epilepsy.

  15. 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

  16. 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

  17. 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

  18. Efficacious Healing of Ulcerated Infantile Hemangiomas Using Topical Timolol

    PubMed Central

    Chang, Chun-Shin

    2016-01-01

    Summary: Infantile hemangiomas (IHs) are the most common benign pediatric soft-tissue tumors. Ulceration—the most frequent complication of IH—tends to heal poorly and is associated with pain, bleeding, infection, and scarring. Mainstay treatment modalities include propranolol (β-blocker) and corticosteroids, whose effectiveness is countered by a need for long-term medication and risk of systemic adverse effects and ulcer recurrence. A 3-month-old infant presented to us with a large, medial thigh-ulcerated IH that progressed despite 2 prior months of dressings and topical antimicrobials. Topical timolol 0.5% thrice daily was initiated, and significant healing was evident at 1 week, with complete healing at 1 month. Timolol was stopped after 3 months, and at 18 months after cessation of timolol, there was no ulcer recurrence. This novel therapy for ulcerated IH seems to have many advantages such as rapid efficacy with easy application, no systemic adverse effects and no long-term recurrence, and current literature describing similar advantages justifies the use of this treatment modality in infants. PMID:27014550

  19. 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. PMID:27022444

  20. 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.

  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. Autopsy findings in two siblings with infantile Refsum disease.

    PubMed

    Chow, C W; Poulos, A; Fellenberg, A J; Christodoulou, J; Danks, D M

    1992-01-01

    Recognition of adrenal atrophy during a review of autopsy findings in two sisters who died at 8 months and 3 1/2 years prompted estimation of very long chain fatty acids, phytanic acid and pristanic acid on wet liver fixed in formalin for 12 years. These were shown to be markedly increased and defects in multiple peroxisomal functions and decrease in particulate catalase were shown in cultured fibroblasts, confirming an abnormality of peroxisomal biogenesis. The patients had presented with failure to thrive, recurrent diarrhoea and vomiting, poor mental development, retinal pigmentation, blindness and in the older patient deafness, with only mild dysmorphic features. Autopsy in the older patient showed adrenal atrophy, cirrhosis, and foamy histiocytes in multiple organs. The brain showed no demyelination, little cytoarchitectural abnormality, occasional perivascular histiocytes in the grey matter and meninges and prominent Purkinje cells in the molecular layer of the cerebellum. In the younger patient the changes were very subtle in spite of the marked clinical similarity. Despite the young age at death the clinicopathological features are most suggestive of infantile Refsum disease. In many situations anatomical pathology can be very useful in the recognition and study of peroxisomal disorders.

  3. Contribution of Embodiment to Solving the Riddle of Infantile Amnesia.

    PubMed

    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

  4. Infantile zinc deficiency: Association with autism spectrum disorders

    PubMed Central

    Yasuda, Hiroshi; Yoshida, Kazuya; Yasuda, Yuichi; Tsutsui, Toyoharu

    2011-01-01

    Elucidation of the pathogenesis and effective treatment of autism spectrum disorders is one of the challenges today. In this study, we examine hair zinc concentrations for 1,967 children with autistic disorders (1,553 males and 414 females), and show considerable association with zinc deficiency. Histogram of hair zinc concentration was non-symmetric with tailing in lower range, and 584 subjects were found to have lower zinc concentrations than −2 standard deviation level of its reference range (86.3–193ppm). The incidence rate of zinc deficiency in infant group aged 0–3 year-old was estimated 43.5 % in male and 52.5 % in female. The lowest zinc concentration of 10.7 ppm was detected in a 2-year-old boy, corresponding to about 1/12 of the control mean level. These findings suggest that infantile zinc deficiency may epigenetically contribute to the pathogenesis of autism and nutritional approach may yield a novel hope for its treatment and prevention. PMID:22355646

  5. Infantile Systemic Hyalinosis: A Case Report with a Novel Mutation

    PubMed Central

    Al Sinani, Siham; Al Murshedy, Fathyia; Abdwani, Reem

    2013-01-01

    Infantile Systemic Hyalinosis (ISH) (OMIM 236490) is a rare, progressive and fatal autosomal recessive disorder characterized by multiple subcutaneous skin nodules, gingival hypertrophy, osteopenia, joint contractures, failure to thrive, diarrhea with protein losing enteropathy, and frequent infections. There is diffuse deposition of hyaline material in the skin, gastrointestinal tract, muscle and endocrine glands. It is caused by mutations in the ANTXR2 (also known as CMG2) gene, which encodes a trans-membranous protein involved in endothelial development and basement membrane-extracellular matrix assembly. We describe a child with classical features of ISH presenting in infancy with severe chronic debilitating pain and progressive joint contractures. The diagnosis was confirmed by molecular DNA sequencing of ANTXR2 gene which revealed a novel homozygous mutation not previously reported; 79 bp deletion of the entire exon 11 (c.867_945del, p.E289DfsX22). Although this is the first reported case of ISH in Oman, we believe that the disease is under-diagnosed since children affected with this lethal disease pass away early in infancy prior to establishing a final diagnosis. PMID:23386947

  6. 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

  7. Infantile sexuality: Its place in the conceptual developments of Anna Freud and Donald W. Winnicott.

    PubMed

    Joyce, Angela

    2016-06-01

    This essay explores the place of infantile sexuality in the theories of Anna Freud and Donald W Winnicott. Both Anna Freud and D.W. Winnicott incorporated and at the same time changed the classical psychoanalytic account of infantile sexuality and the instinctual drives. Whilst Anna Freud remained closer to her father's original conceptualization, she developed a multidimensional model of development which gave the drives a foundational status whist also maintaining their significance in giving meaning and texture to children's subjective experience. Winnicott also retained much of S. Freud's original theorizing except that in a fundamental way he turned it on its head when considering earliest development. For him the establishment of the self was paramount, and the drives and infantile sexuality merely served to give substance to that self. PMID:27437634

  8. Infantile sexuality: Its place in the conceptual developments of Anna Freud and Donald W. Winnicott.

    PubMed

    Joyce, Angela

    2016-06-01

    This essay explores the place of infantile sexuality in the theories of Anna Freud and Donald W Winnicott. Both Anna Freud and D.W. Winnicott incorporated and at the same time changed the classical psychoanalytic account of infantile sexuality and the instinctual drives. Whilst Anna Freud remained closer to her father's original conceptualization, she developed a multidimensional model of development which gave the drives a foundational status whist also maintaining their significance in giving meaning and texture to children's subjective experience. Winnicott also retained much of S. Freud's original theorizing except that in a fundamental way he turned it on its head when considering earliest development. For him the establishment of the self was paramount, and the drives and infantile sexuality merely served to give substance to that self.

  9. Infantile Refsum disease: an inherited peroxisomal disorder. Comparison with Zellweger syndrome and neonatal adrenoleukodystrophy.

    PubMed

    Poll-The, B T; Saudubray, J M; Ogier, H A; Odièvre, M; Scotto, J M; Monnens, L; Govaerts, L C; Roels, F; Cornelis, A; Schutgens, R B

    1987-09-01

    Three patients affected by infantile Refsum disease are described with mental retardation, minor facial dysmorphia, chorioretinopathy, sensorineural hearing deficit, hepatomegaly, failure to thrive and hypocholesterolaemia. Initially, only an accumulation of phytanic acid was thought to be present. More recent findings showed a biochemical profile very similar to that found in classical Zellweger syndrome or neonatal adrenoleukodystrophy. Morphologically typical peroxisomes were absent in the liver. All three disorders are associated with multiple peroxisomal dysfunction. Because of these similarities pertinent clinical data of our three patients are compared with those of reported patients diagnosed as having infantile Refsum disease, neonatal adrenoleukodystrophy or Zellweger syndrome who survived for several years. Attention is drawn to the difference in severity of clinical features, ranging from infantile Refsum's disease to neonatal adrenoleukodystrophy and, finally, to Zellweger syndrome.

  10. Polymicrogyria and infantile spasms in a patient with 1p36 deletion syndrome.

    PubMed

    Saito, Yoshiaki; Kubota, Masaya; Kurosawa, Kenji; Ichihashi, Izumi; Kaneko, Yuu; Hattori, Ayako; Komaki, Hirofumi; Nakagawa, Eiji; Sugai, Kenji; Sasaki, Masayuki

    2011-05-01

    A 3-months-old boy presented with partial seizures that soon evolved into infantile spasms. Magnetic resonance imaging revealed bilateral perisylvian polymicrogyria with right-sided predominance. ACTH therapy successfully controlled epilepsy and electroencephalograms were normalized. Conventional G-banded chromosomal analysis was performed due to his distinctive features and a derivative chromosome 1 derived from parental balanced translocation with a karyoptype of 46,XY,der(1)t(1;4)(p36.23;q35) was detected. Fluorescent in situ hybridization analysis confirmed the deleted region of 1p36 as large as 8.6Mb. This is the first delineation of concurrent complications of infantile spasms and polymicrogyria in patient with 1p36 deletion. 1p36 deletion syndrome should be broadly recognized as a differential diagnosis of regional polymicrogyria and/or infantile spasms.

  11. Myocarditis caused by Feline Immunodeficiency Virus in Five Cats with Hypertrophic Cardiomyopathy.

    PubMed

    Rolim, V Machado; Casagrande, R Assis; Wouters, A Terezinha Barth; Driemeier, D; Pavarini, S Petinatti

    2016-01-01

    Viral infections have been implicated as the cause of cardiomyopathy in several mammalian species. This study describes hypertrophic cardiomyopathy (HCM) and myocarditis associated with feline immunodeficiency virus (FIV) infection in five cats aged between 1 and 4 years. Clinical manifestations included dyspnoea in four animals, one of which also exhibited restlessness. One animal showed only lethargy, anorexia and vomiting. Necropsy examination revealed marked cardiomegaly, marked left ventricular hypertrophy and pallor of the myocardium and epicardium in all animals. Microscopical and immunohistochemical examination showed multifocal infiltration of the myocardium with T lymphocytes and fewer macrophages, neutrophils and plasma cells. An intense immunoreaction for FIV antigen in the cytoplasm and nucleus of lymphocytes and the cytoplasm of some macrophages was observed via immunohistochemistry (IHC). IHC did not reveal the presence of antigen from feline calicivirus, coronavirus, feline leukaemia virus, feline parvovirus, Chlamydia spp. or Toxoplasma gondii. The results demonstrate the occurrence of FIV infection in inflammatory cells in the myocardium of five cats with myocarditis and HCM. PMID:26797583

  12. Slowed atrial and atrioventricular conduction and depressed HRV in a murine model of hypertrophic cardiomyopathy.

    PubMed

    Lim, Wei-Wen; Baumert, Mathias; Neo, Melissa; Kuklik, Pawel; Ganesan, Anand N; Lau, Dennis H; Tsoutsman, Tatiana; Semsarian, Christopher; Sanders, Prashanthan; Saint, David A

    2016-01-01

    Hypertrophic cardiomyopathy (HCM) is a common heritable cardiac disorder with diverse clinical outcomes including sudden death, heart failure, and stroke. Depressed heart rate variability (HRV), a measure of cardiac autonomic regulation, has been shown to predict mortality in patients with cardiovascular disease. Cardiac autonomic remodelling in animal models of HCM are not well characterised. This study analysed Gly203Ser cardiac troponin-I transgenic (TG) male mice previously demonstrated to develop hallmarks of HCM by age 21 weeks. 33 mice aged 30 and 50 weeks underwent continuous electrocardiogram (ECG) recording for 30 min under anaesthesia. TG mice demonstrated prolonged P-wave duration (P < 0.001) and PR intervals (P < 0.001) compared to controls. Additionally, TG mice demonstrated depressed standard deviation of RR intervals (SDRR; P < 0.01), coefficient of variation of RR intervals (CVRR; P < 0.001) and standard deviation of heart rate (SDHR; P < 0.001) compared to controls. Additionally, total power was significantly reduced in TG mice (P < 0.05). No significant age-related difference in either strain was observed in ECG or HRV parameters. Mice with HCM developed slowed atrial and atrioventricular conduction and depressed HRV. These changes were conserved with increasing age. This finding may be indicative of atrial and ventricular hypertrophy or dysfunction, and perhaps an indication of worse clinical outcome in heart failure progression in HCM patients.

  13. 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

  14. 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

  15. Constructing "best interests": genetic testing of children in families with hypertrophic cardiomyopathy.

    PubMed

    Geelen, Els; Van Hoyweghen, Ine; Doevendans, Pieter A; Marcelis, Carlo L M; Horstman, Klasien

    2011-08-01

    Professional guidelines on genetic testing of children have recently shifted their focus from protecting the child's autonomous choice to professionals, together with parents, striving to work in the child's "best interest." This notion of "best interest" allows room for therapeutical as well as psychological and social considerations, and gives rise to the question how parents and professionals weigh up the child's best interest in practice. In this qualitative study, we followed six extended families involved in genetic testing for hypertrophic cardiomyopathy in the Netherlands for 3½ years. In total 57 members of these families were interviewed in depth; many of them more than once. Our empirical analysis shows that the best interest of a child is constructed via long-term processes in the broader context of family and kin. In this context, "best interests" are considered and reconsidered. We conclude that a child's best interest should not be framed as the result of an instantaneous agreement between parents and professionals. In dealing with genetic testing of children, parents as well as professionals reflect on and learn from the processes of generating new meanings of "best interest." To enable professionals to deal with the variety in family life, these learning processes should be documented closely. PMID:21739592

  16. Comparison of Modified With Classic Morrow Septal Myectomy in Treating Hypertrophic Obstructive Cardiomyopathy

    PubMed Central

    Song, Bangrong; Dong, Ran

    2016-01-01

    Abstract This study aimed to compare the efficacy and safety of the classic Morrow septal myectomy with the modified procedure in treating hypertrophic obstructive cardiomyopathy (HOCM). A retrospective study was conducted to compare the outcomes of classic with modified Morrow septal myectomy in 42 patients treated from January 2005 to July 2011. Preoperative and postoperative ventricular septal thickness, left ventricular (LV) outflow tract velocity and gradient were measured echocardiographically. In both groups, the ventricular septal thickness, LV outflow tract velocity, and LV outflow tract gradient were significantly decreased after the operation. The modified Morrow procedure group, however, showed significantly greater reduction in these echocardiographic parameters than the classic procedure group. All patients in the modified procedure group were asymptomatic postoperatively with a postoperative transvalvular pressure gradient <30 mm Hg. In the classic procedure group, only 14 (87.5%) patients, however, were asymptomatic postoperatively with a postoperative transvalvular pressure gradient <30 mm Hg, and 2 patients still had severe LV outflow obstruction postoperatively. The modified Morrow septal myectomy is safe and effective in treating HOCM patients, and is superior to the classic procedure in reducing the LV outflow tract gradient and velocity, restoring normal anatomic atrioventricular size, and alleviating symptoms associated with HOCM. PMID:26765408

  17. Outcomes of an extended Morrow procedure without a concomitant mitral valve procedure for hypertrophic obstructive cardiomyopathy

    PubMed Central

    Liu, Yun; Song, Yunhu; Gao, Ge; Ran, Jun; Su, Wenjun; Li, Haojie; Tang, Yajie; Duan, Fujian; Sun, Hansong

    2016-01-01

    The indications for a concomitant mitral valve (MV) procedure remain controversial for patients with hypertrophic obstructive cardiomyopathy (HOCM). According to previous studies, a concomitant MV surgery was required in 11–20% of inpatient operations. Thus, we aimed to study the outcomes of an extended Morrow procedure without a concomitant MV procedure for HOCM patients who had no intrinsic abnormalities of the MV apparatus. We retrospectively reviewed 232 consecutive HOCM patients who underwent extended Morrow procedures from January 2010 to October 2014. Only 10 (4.31%) patients with intrinsic MV diseases underwent concomitant MV procedures. Of the 232 patients, 230 had no to mild mitral regurgitation (MR) postoperatively. We separated the 232 patients into two groups according to preoperative MR degree. One group is mild MR, and the other is moderate or severe MR. The three-month, one-year, and three-year composite end-point event-free survival rates had no difference between two groups (p = 0.820). When we separated the patients to postoperative no or trace MR group and mild MR group, there was also no difference on survival rates (p = 0.830). In conclusion, concomitant mitral valve procedures are not necessary for HOCM patients with MR caused by systolic anterior motion, even moderate to severe extent. PMID:27357867

  18. 5-Fluorouracil in the Treatment of Keloids and Hypertrophic Scars: A Comprehensive Review of the Literature.

    PubMed

    Shah, Vidhi V; Aldahan, Adam S; Mlacker, Stephanie; Alsaidan, Mohammed; Samarkandy, Sahal; Nouri, Keyvan

    2016-06-01

    Hypertrophic (HTSs) and keloid scars are common dermatological complaints produced by disruption of the normal wound-healing process. Despite a wide array of therapeutic options available to treat these lesions, HTSs and keloids continue to pose a significant challenge to clinicians in everyday practice. The chemotherapeutic drug 5-fluorouracil (5-FU) is a well-known treatment option reserved for recalcitrant HTSs and keloid lesions. We present clinicians with a comprehensive review of the published data concerning the use of 5-FU in the treatment of HTSs and keloids. The current evidence suggests that 5-FU is a safe and practical alternative for the treatment of HTSs and keloids as it may substantially improve the appearance of proliferative scars and reduce the chance of recurrence. This therapeutic option is most effective in conjunction with adjuvant therapy such as corticosteroids. Additional randomized controlled clinical trials with large sample sizes should be conducted to corroborate the existing efficacy and safety data in patients with HTSs and keloids. PMID:27105629

  19. Fabry disease in patients with hypertrophic cardiomyopathy: a practical approach to diagnosis.

    PubMed

    Seo, Jiwon; Kim, Minji; Hong, Geu-Ru; Kim, Dae-Seong; Son, Jang-Won; Cho, In Jeong; Shim, Chi Young; Chang, Hyuk-Jae; Ha, Jong-Won; Chung, Namsik

    2016-09-01

    This study aimed to develop a new set of screening criteria that is easily applicable and highly sensitive for the detection of patients at high risk of Fabry disease (FD) among hypertrophic cardiomyopathy (HCM) patients. We prospectively studied 273 consecutive unrelated patients who were referred to HCM clinic for unknown left ventricular hypertrophy. Among the 273 patients, we selected 65 high-risk patients who fulfilled at least one of our newly proposed screening criteria. All 273 patients were assayed for plasma α-galactosidase A (α-GAL A) activity. The new screening criteria were: (1) atypical HCM, (2) history or presence of documented arrhythmia, (3) short PR interval defined as <120 ms on electrocardiogram, and (4) symptoms of autonomic dysfunction. From this screening study, three unrelated patients (4.6%; 2 females and 1 male) were newly diagnosed with FD using α-GAL A activity and mutation analysis of the GLA gene. Using the screening method based on the newly proposed criteria, the prevalence of FD in our HCM population was 4.6% if at least one criterion was met and 18.8% if ⩾3 criteria were met. Therefore, our proposed criteria are easily applicable and highly sensitive for classifying patients at high risk of FD from HCM patients. PMID:27225851

  20. Decreased contractility due to energy deprivation in a transgenic rat model of hypertrophic cardiomyopathy.

    PubMed

    Luedde, Mark; Flögel, Ulrich; Knorr, Maike; Grundt, Christina; Hippe, Hans-Joerg; Brors, Benedikt; Frank, Derk; Haselmann, Uta; Antony, Claude; Voelkers, Mirko; Schrader, Juergen; Most, Patrick; Lemmer, Bjoern; Katus, Hugo A; Frey, Norbert

    2009-04-01

    Hypertrophic cardiomyopathy (HCM) is associated with cardiac hypertrophy, diastolic dysfunction, and sudden death. Recently, it has been suggested that inefficient energy utilization could be a common molecular pathway of HCM-related mutations. We have previously generated transgenic Sprague-Dawley rats overexpressing a truncated cardiac troponin T (DEL-TNT) molecule, displaying typical features of HCM such as diastolic dysfunction and an increased susceptibility to ventricular arrhythmias. We now studied these rats using 31P magnetic resonance spectroscopy (MRS). MRS demonstrated that cardiac energy metabolism was markedly impaired, as indicated by a decreased phosphocreatine to ATP ratio (-31%, p < 0.05). In addition, we assessed contractility of isolated cardiomyocytes. While DEL-TNT and control cardiomyocytes showed no difference under baseline conditions, DEL-TNT cardiomyocytes selectively exhibited a decrease in fractional shortening by 28% after 1 h in glucose-deprived medium (p < 0.05). Moreover, significant decreases in contraction velocity and relaxation velocity were observed. To identify the underlying molecular pathways, we performed transcriptional profiling using real-time PCR. DEL-TNT hearts exhibited induction of several genes critical for cardiac energy supply, including CD36, CPT-1/-2, and PGC-1alpha. Finally, DEL-TNT rats and controls were studied by radiotelemetry after being stressed by isoproterenol, revealing a significantly increased frequency of arrhythmias in transgenic animals. In summary, we demonstrate profound energetic alterations in DEL-TNT hearts, supporting the notion that inefficient cellular ATP utilization contributes to the pathogenesis of HCM. PMID:19189074

  1. Stimulation of the renin-angiotensin system in cats with hypertrophic cardiomyopathy.

    PubMed

    Taugner, F M

    2001-01-01

    Feline hypertrophic cardiomyopathy (HCM) is a disease of the ventricular myocardium, which may cause sudden death in cats, but neither the aetiology nor the effect on the circulation are well understood. Fourteen cats of either sex with naturally occurring HCM were studied post mortem. Their ages ranged from 9 months to 10 years with an average age of 4.9 years. Heart weights and heart weight expressed as a percentage of body weight were elevated (27.9 g and 0.65%, respectively) as compared with normal values obtained in previous studies. Myocardial disarray was evident in nine of the 14 cats and moderate to severe fibrosis was present in six animals. To evaluate the renal renin-angiotensin system, semiquantitative morphometric data were obtained by means of renin immunohistochemistry and compared with results from an earlier study of 10 healthy cats by the author. The juxtaglomerular index was 36.8% in the cats with HCM as compared with 30.6% in healthy cats. The renin-positive portion of the afferent arteriole was increased in cats affected by HCM to 86.0 microm as compared with 49.9 microm in normal cats. The increase in kidney renin values in cats with HCM may have been due to decreased blood pressure and reduced renal perfusion resulting from impaired cardiac output. PMID:11578127

  2. The cutometer and ultrasonography in the assessment of postburn hypertrophic scar--a preliminary study.

    PubMed

    Fong, S S; Hung, L K; Cheng, J C

    1997-03-01

    Sixteen patients with various degrees of postburn hypertrophic scars were evaluated by ultrasonography and elastometry. An Aloka Echo Camera (SSD-500) with a 7.5 MHz probe and a Cutometer SEM 575 skin elastometer were used. Serial monthly examinations were performed using both pieces of equipment. In some patients, more than one scar was assessed. The assessments were correlated with clinical grading of the progress of the scars. It was noted that ultrasonography was very sensitive in the localization of scar tissues, distinguishing them from normal skin, assessment of thickness and also delineation of the extent of scar tissues. The subcutaneous part of the scar could be assessed. Cutometer SEM 575 is a new machine that applies a gentle suction to the skin to measure its viscoelasticity. It is sensitive, the inter-observer variation is low, and it could be used for the grading of a scar. These two assessment techniques compliment other methods of scar assessment and will prove useful when assessment of response to treatment is required. PMID:9177896

  3. Pedobacter roseus sp. nov., isolated from a hypertrophic pond, and emended description of the genus Pedobacter.

    PubMed

    Hwang, Chung Yeon; Choi, Dong Han; Cho, Byung Cheol

    2006-08-01

    A Gram-negative, pink-coloured, rod-shaped, non-flagellated bacterium, designated CL-GP80(T), was isolated from a hypertrophic pond located within the campus of Seoul National University, Korea. Analysis of its 16S rRNA gene sequence revealed that strain CL-GP80(T) belongs to the family Sphingobacteriaceae and is closely related to Pedobacter heparinus ATCC 13125(T) (95.8 % sequence similarity) and to other members of the genus Pedobacter (90.8-95.3 % similarity). Temperature and pH ranges for growth were 5-33 degrees C and pH 6-8, respectively. The DNA G+C content was 41.3 mol%. The major fatty acids were iso-C(15 : 0) (37.0 %), iso-C(15 : 0) 2-OH and/or C(16 : 1)omega7c (24.5 %), and iso-C(17 : 0) 3-OH (11.3 %). Phenotypic, chemotaxonomic and phylogenetic analyses indicated that strain CL-GP80(T) could be assigned to the genus Pedobacter, but distinguished from recognized species of the genus. Strain CL-GP80(T) (=KCCM 42272(T)=JCM 13399(T)) is therefore proposed as the type strain of a novel species, for which the name Pedobacter roseus sp. nov. is proposed. PMID:16902016

  4. 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.

  5. Surface biofunctional drug-loaded electrospun fibrous scaffolds for comprehensive repairing hypertrophic scars.

    PubMed

    Cheng, Liying; Sun, Xiaoming; Zhao, Xin; Wang, Lan; Yu, Jia; Pan, Guoqing; Li, Bin; Yang, Huilin; Zhang, Yuguang; Cui, Wenguo

    2016-03-01

    Incorporation of bioactive drugs and biofunctionalization of polyester fibrous scaffolds are essential means to improve their bio-functions and histocompatibility for regenerative medicine. However, it is still a challenge to biofunctionalize such drug carriers via traditional biochemical methods while maintaining their properties without changes in drug activity and loading ratio. Here, we demonstrated a facile approach for biofunctionalization of PLGA fibrous scaffolds with various molecules (i.e., PEG polymer, RGD peptide and bFGF growth factor for cell repellent, adhesion and proliferation, respectively) via mussel-Inspired poly(dopamine) (PDA) coating in aqueous solution. By virtue of the mild and efficient nature of this approach, the drug-loaded PLGA fibers could be easily biofunctionalized and showed negligible effects on the scaffold properties, especially drug activity and loading ratio. Further, in vivo study showed that, a ginsenoside-Rg3-loaded fibrous scaffold functionalized with bFGF growth factor could not only promote the early-stage wound healing in rabbit ear wounds (bio-signal from bFGF), but also inhibit later-stage hypertrophic scars formation (release of Rg3 drug). Therefore, the mussel-inspired method for bio-modification provides a facile and effective strategy to combine drug and bio-function in one system, thus facilitating a synergistic effect of drug-therapy and bio-signal when such biomaterial is used for regenerative medicine. PMID:26774564

  6. The effect of p38MAPK on cyclic stretch in human facial hypertrophic scar fibroblast differentiation.

    PubMed

    Du, Qi-cui; Zhang, Dai-zun; Chen, Xiu-juan; Lan-Sun, Gui; Wu, Min; Xiao, Wen-lin

    2013-01-01

    Hypertrophic scars (HTS), the excessive deposition of scar tissue by fibroblasts, is one of the most common skin disorders. Fibroblasts derived from surgical scar tissue produce high levels of α-smooth muscle actin (α-SMA) and transforming growth factor-β1 (TGF-β1). However, the molecular mechanisms for this phenomenon is poorly understood. Thus, the purpose of this study was to evaluate the molecular mechanisms of HTS and their potential therapeutic implications. Fibroblasts derived from skin HTS were cultured and characterized in vitro. The fibroblasts were synchronized and randomly assigned to two groups: cyclic stretch and cyclic stretch pre-treated with SB203580 (a p38MAPK inhibitor). Cyclic stretch at 10% strain was applied at a loading frequency of 10 cycles per minute (i.e. 5 seconds of tension and 5 seconds of relaxation) for 0 h, 6 h and 12 h. Cyclic stretch on HTS fibroblasts led to an increase in the expression of α-SMA and TGF-β1 mRNA and protein and the phosphorylation of p38MAPK. SB203580 reversed these effects and caused a decrease in matrix contraction. Furthermore, HTS fibroblast growth was partially blocked by p38MAPK inhibition. Therefore, the mechanism of cyclic stretch involves p38 MAPK, and its inhibition is suggested as a novel therapeutic strategy for HTS.

  7. Are We Missing Hypertrophic Cardiomyopathy in Pregnancy? Experience of a Tertiary Care Hospital

    PubMed Central

    Suri, Vanita; Aggarwal, Neelam; Chopra, Seema; Bahl, Ajay; Vijayverghia, Rajesh

    2014-01-01

    Background: Controversies persist regarding risks associated with pregnancy and delivery in women with hypertrophic cardiomyopathy (HCM). To date, pregnancy outcome data for these patients is scarce. We report the experience of pregnancies with HCM in a tertiary care hospital. Materials and Methods: Data regarding cardiac illness and obstetric profile of all women attending the cardio-obstetrics clinic from January 1990 to December 2012 were studied. The records of cardiac illness of all women were checked and all patients with HCM were included in the study. Results: Out of total 2016 patients booked in the cardio-obstetrics clinic between 1990 and 2012, only 4 women were found to have a diagnosis of HCM (0.2%). Of these, 2 women with left ventricular outflow tract obstruction and one with non-obstructive HCM had only mild symptoms and tolerated pregnancy and labour well. One patient had HCM with restrictive physiology developed heart failure and intra-uterine fetal death. Conclusion: HCM is underdiagnosed and rarely identified in pregnancy. Most patients with HCM tolerated pregnancy well, howeverone patient with restrictive physiology developed heart failure during her first pregnancy. PMID:25386487

  8. Ablation of ALCAT1 Mitigates Hypertrophic Cardiomyopathy through Effects on Oxidative Stress and Mitophagy

    PubMed Central

    Liu, Xiaolei; Ye, Benlan; Miller, Shane; Yuan, Huijuan; Zhang, Hongxiu; Tian, Liang; Nie, Jia; Imae, Rieko; Arai, Hiroyuki; Li, Yuanjian; Cheng, Zeneng

    2012-01-01

    Oxidative stress causes mitochondrial dysfunction and heart failure through unknown mechanisms. Cardiolipin (CL), a mitochondrial membrane phospholipid required for oxidative phosphorylation, plays a pivotal role in cardiac function. The onset of age-related heart diseases is characterized by aberrant CL acyl composition that is highly sensitive to oxidative damage, leading to CL peroxidation and mitochondrial dysfunction. Here we report a key role of ALCAT1, a lysocardiolipin acyltransferase that catalyzes the synthesis of CL with a high peroxidation index, in mitochondrial dysfunction associated with hypertrophic cardiomyopathy. We show that ALCAT1 expression was potently upregulated by the onset of hyperthyroid cardiomyopathy, leading to oxidative stress and mitochondrial dysfunction. Accordingly, overexpression of ALCAT1 in H9c2 cardiac cells caused severe oxidative stress, lipid peroxidation, and mitochondrial DNA (mtDNA) depletion. Conversely, ablation of ALCAT1 prevented the onset of T4-induced cardiomyopathy and cardiac dysfunction. ALCAT1 deficiency also mitigated oxidative stress, insulin resistance, and mitochondrial dysfunction by improving mitochondrial quality control through upregulation of PINK1, a mitochondrial GTPase required for mitochondrial autophagy. Together, these findings implicate a key role of ALCAT1 as the missing link between oxidative stress and mitochondrial dysfunction in the etiology of age-related heart diseases. PMID:22949503

  9. 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

  10. TRPC1 channels are critical for hypertrophic signaling in the heart

    PubMed Central

    Seth, Malini; Zhang, Zhu-Shan; Mao, Lan; Graham, Victoria; Burch, Jarrett; Stiber, Jonathan; Tsiokas, Leonidas; Winn, Michelle; Abramowitz, Joel; Rockman, Howard A.; Birnbaumer, Lutz; Rosenberg, Paul

    2010-01-01

    Rationale Cardiac muscle adapts to increased workload by altering cardiomyocyte size and function resulting in cardiac hypertrophy. G-protein coupled receptor (GPCR) signaling is known to govern the hypertrophic response through the regulation of ion channel activity and downstream signaling in failing cardiomyocytes. Objective Transient receptor potential canonical (TRPC) channels are GPCR operated channels previously implicated in cardiac hypertrophy. Our objective of this study is to better understand how TRPC channels influence cardiomyocyte calcium signaling. Methods and Results Here, we used whole cell patch clamp of adult cardiomyocytes to show upregulation of a non-selective cation current reminiscent of TRPC channels subjected to pressure overload. This TRPC current corresponds to the increased TRPC channel expression noted in hearts of mice subjected to pressure overload. Importantly, we show that mice lacking TRPC1 channels are missing this putative TRPC current. Moreover, Trpc1−/− mice fail to manifest evidence of maladaptive cardiac hypertrophy and maintain preserved cardiac function when subjected to hemodynamic stress and neurohormonal excess. In addition, we provide a mechanistic basis for the protection conferred to Trpc1−/− mice as mechanosensitive signaling through calcineurin/NFAT, mTOR and Akt is altered in Trpc1−/− mice. Conclusions From these studies, we suggest that TRPC1 channels are critical for the adaptation to biomechanical stress and TRPC dysregulation leads to maladaptive cardiac hypertrophy and failure. PMID:19797170

  11. 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

  12. Hypertrophic response of the Association of Thyroid Hormone and Exercise in the Heart of Rats

    PubMed Central

    de Souza, Fernanda Rodrigues; Resende, Elmiro Santos; Lopes, Leandro; Gonçalves, Alexandre; Chagas, Rafaella; Fidale, Thiago; Rodrigues, Poliana

    2014-01-01

    Background Cardiac hypertrophy is a component of cardiac remodeling occurring in response to an increase of the activity or functional overload of the heart. Objective Assess hypertrophic response of the association of thyroid hormone and exercise in the rat heart. Methods We used 37 Wistar rats, male, adults were randomly divided into four groups: control, hormone (TH), exercise (E), thyroid hormone and exercise (H + E); the group received daily hormone levothyroxine sodium by gavage at a dose of 20 μg thyroid hormone/100g body weight, the exercise group took swimming five times a week, with additional weight corresponding to 20% of body weight for six weeks; in group H + E were applied simultaneously TH treatment groups and E. The statistics used was analysis of variance, where appropriate, by Tukey test and Pearson correlation test. Results The T4 was greater in groups TH and H + E. The total weight of the heart was greater in patients who received thyroid hormone and left ventricular weight was greater in the TH group. The transverse diameter of cardiomyocytes increased in groups TH, E and H + E. The percentage of collagen was greater in groups E and H + E Correlation analysis between variables showed distinct responses. Conclusion The association of thyroid hormone with high-intensity exercise produced cardiac hypertrophy, and generated a standard hypertrophy not directly correlated to the degree of fibrosis. PMID:24676374

  13. 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. PMID:22033085

  14. Cardiac sarcoidosis mimicking hypertrophic cardiomyopathy: clinical utility of radionuclide imaging for differential diagnosis.

    PubMed

    Yazaki, Y; Isobe, M; Hayasaka, M; Tanaka, M; Fujii, T; Sekiguchi, M

    1998-06-01

    A 62-year-old woman with skin sarcoidosis was admitted to our hospital to ascertain whether she had cardiac involvement. Although she displayed no cardiac signs or symptoms, the electrocardiogram showed first-degree atrioventricular block, right bundle branch block with left anterior fascicular block, and giant negative T waves in the V3 lead. Echocardiography revealed marked hypertrophy localized in the basal portion of the interventricular septum (IVS) without systolic dysfunction, mimicking hypertrophic cardiomyopathy (HCM). Exercise thallium-201 myocardial imaging revealed redistribution in the anteroseptal region. Both gallium-67 (67Ga) and technetium-99m pyrophosphate (99mTc-PYP) scintigraphy revealed abnormal uptake in the myocardium. These findings disappeared after 2 months of steroid treatment. Reports of cardiac sarcoidosis mimicking HCM are rare. However, hypertrophy in the basal portion of the IVS is an important sign of early cardiac involvement in sarcoidosis. 67Ga and 99mTc-PYP scintigraphy were useful and necessary to differentiate this type of cardiac sarcoidosis from HCM.

  15. Annexin A7 deficiency potentiates cardiac NFAT activity promoting hypertrophic signaling.

    PubMed

    Voelkl, Jakob; Alesutan, Ioana; Pakladok, Tatsiana; Viereck, Robert; Feger, Martina; Mia, Sobuj; Schönberger, Tanja; Noegel, Angelika A; Gawaz, Meinrad; Lang, Florian

    2014-02-28

    Annexin A7 (Anxa7) is a cytoskeletal protein interacting with Ca(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(-/-)) and wild-type mice (anxa7(+/+)) 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(-/-) mice than in anxa7(+/+) 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. PMID:24508799

  16. [CHRONIC PERIODONTITIS WITH SYMPTOMATIC HYPERTROPHIC GINGIVITIS: CASE REPORT AND REVIEW OF THE LITERATURE].

    PubMed

    Shinkevich, V; Udaltsova, K; Pisarenko, E; Kolomiets, S; Khmil, T

    2015-12-01

    Gingivitis in traditional national dentistry referred to independent diseases or symptomatic condition in periodontitis and classified morphologically. The diagnostic features of the diseases are characteristic, but the clinical presentation of symptomatic gingivitis and patterns of bone destructions may vary between patients. Successful treatment of the disease depends from proper diagnosis and advanced disease stages, but for symptomatic gingivitis that accompanying chronic periodontitis, protocols include surgical excision. Despite of the high prevalence of chronic generalized periodontitis, its active treatment often start in severe destruction and bone loss (2-3 stage severity). Today etiotropic antimicrobial therapy is real way to control microbial biofilm and has solid evidence base. Applying of etiotropic antimicrobial therapy as systemic azithromycin with timely treatment of mild to moderate periodontal and bone destruction may reduce severe periodontitis incidence of and treatment-related complications in the future. This paper attempts to describe the clinical diagnostic features and the current treatment options along with a suggested protocol for comprehensive management of chronic generalized periodontitis and hypertrophic gingivitis patient with case reports and a brief review. PMID:26719550

  17. 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

  18. Decreased contractility due to energy deprivation in a transgenic rat model of hypertrophic cardiomyopathy.

    PubMed

    Luedde, Mark; Flögel, Ulrich; Knorr, Maike; Grundt, Christina; Hippe, Hans-Joerg; Brors, Benedikt; Frank, Derk; Haselmann, Uta; Antony, Claude; Voelkers, Mirko; Schrader, Juergen; Most, Patrick; Lemmer, Bjoern; Katus, Hugo A; Frey, Norbert

    2009-04-01

    Hypertrophic cardiomyopathy (HCM) is associated with cardiac hypertrophy, diastolic dysfunction, and sudden death. Recently, it has been suggested that inefficient energy utilization could be a common molecular pathway of HCM-related mutations. We have previously generated transgenic Sprague-Dawley rats overexpressing a truncated cardiac troponin T (DEL-TNT) molecule, displaying typical features of HCM such as diastolic dysfunction and an increased susceptibility to ventricular arrhythmias. We now studied these rats using 31P magnetic resonance spectroscopy (MRS). MRS demonstrated that cardiac energy metabolism was markedly impaired, as indicated by a decreased phosphocreatine to ATP ratio (-31%, p < 0.05). In addition, we assessed contractility of isolated cardiomyocytes. While DEL-TNT and control cardiomyocytes showed no difference under baseline conditions, DEL-TNT cardiomyocytes selectively exhibited a decrease in fractional shortening by 28% after 1 h in glucose-deprived medium (p < 0.05). Moreover, significant decreases in contraction velocity and relaxation velocity were observed. To identify the underlying molecular pathways, we performed transcriptional profiling using real-time PCR. DEL-TNT hearts exhibited induction of several genes critical for cardiac energy supply, including CD36, CPT-1/-2, and PGC-1alpha. Finally, DEL-TNT rats and controls were studied by radiotelemetry after being stressed by isoproterenol, revealing a significantly increased frequency of arrhythmias in transgenic animals. In summary, we demonstrate profound energetic alterations in DEL-TNT hearts, supporting the notion that inefficient cellular ATP utilization contributes to the pathogenesis of HCM.

  19. Fabry disease in patients with hypertrophic cardiomyopathy: a practical approach to diagnosis.

    PubMed

    Seo, Jiwon; Kim, Minji; Hong, Geu-Ru; Kim, Dae-Seong; Son, Jang-Won; Cho, In Jeong; Shim, Chi Young; Chang, Hyuk-Jae; Ha, Jong-Won; Chung, Namsik

    2016-09-01

    This study aimed to develop a new set of screening criteria that is easily applicable and highly sensitive for the detection of patients at high risk of Fabry disease (FD) among hypertrophic cardiomyopathy (HCM) patients. We prospectively studied 273 consecutive unrelated patients who were referred to HCM clinic for unknown left ventricular hypertrophy. Among the 273 patients, we selected 65 high-risk patients who fulfilled at least one of our newly proposed screening criteria. All 273 patients were assayed for plasma α-galactosidase A (α-GAL A) activity. The new screening criteria were: (1) atypical HCM, (2) history or presence of documented arrhythmia, (3) short PR interval defined as <120 ms on electrocardiogram, and (4) symptoms of autonomic dysfunction. From this screening study, three unrelated patients (4.6%; 2 females and 1 male) were newly diagnosed with FD using α-GAL A activity and mutation analysis of the GLA gene. Using the screening method based on the newly proposed criteria, the prevalence of FD in our HCM population was 4.6% if at least one criterion was met and 18.8% if ⩾3 criteria were met. Therefore, our proposed criteria are easily applicable and highly sensitive for classifying patients at high risk of FD from HCM patients.

  20. 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.

  1. A novel recessive 15-hydroxyprostaglandin dehydrogenase mutation in a family with primary hypertrophic osteoarthropathy.

    PubMed

    Erken, Eren; Köroğlu, Çiğdem; Yıldız, Fatih; Özer, Hüseyin T E; Gülek, Bozkurt; Tolun, Aslıhan

    2015-03-01

    We present two PHO siblings having a novel homozygous truncating mutation in HPGD. The purpose of the study was to attempt medical treatment, and to find the HPGD mutation causing the disease, in a 22-year old Turkish male and his 23-year old sister afflicted with primary hypertrophic osteoarthropathy (PHO). In combination with NSAIDs and colchicine, treatment with sulfasalazine was started in both cases, and methotrexate was added to the treatment regimen of the female patient at the end of the first year. The patients were found to be typical PHO. Ultrasonographic examination of the joints revealed synovitis and inflammation by B mode and power Doppler ultrasonography. Joint symptoms responded to sulfasalazine treatment in both patients. However, after the addition of methotrexate, the female patient had better remission. All exons of HPGD, the known disease gene, were analyzed by Sanger sequencing. A homozygous 2-bp deletion (c.310_311delCT or p.L104AfsX3) was identified. Seven relatives carrying the mutation in the heterozygous state were examined and none was found affected. Although not specific for this disease, skin, soft tissue and joint ultrasonography can be helpful for evaluation of the musculoskeletal findings in the patients. PMID:24533558

  2. Mid-Term Results of Dual-Chamber Pacing in Children with Hypertrophic Obstructive Cardiomyopathy.

    PubMed

    Alday, Luis E.; Bruno, Eva; Moreyra, Eduardo; Amuchastegui, Luis M.; Juaneda, Ernesto; Maisuls, Hector

    1998-04-01

    BACKGROUND: Permanent dual-chambered pacing (DDD) is an alternative to surgical treatment in patients with severe hypertrophic obstructive cardiomyopathy (HOCM) who do not have a satisfactory response to medical treatment. METHODS: Five children with severe HOCM still symptomatic despite medical treatment underwent permanent DDD pacing and were followed for 21 +/- 9.7 months. RESULTS: All patients improved their functional class. Doppler echocardiographic studies showed an early reduction of the left ventricular outflow tract gradient from 66 +/- 40 to 40 +/- 20 mmHg (P < 0.05) and to 30 +/- 11 mmHg (P < 0.05 and NS for comparison with the baseline and the early post-DDD pacing gradients, respectively) at mid-term follow-up. There was no evidence of left ventricular systolic dysfunction, and the results of left ventricular filling studies ruled out deleterious effects on diastolic function. Doppler echocardiography played a key role in the initial and subsequent assessment of these patients. CONCLUSIONS: Permanent DDD pacing is a reasonable alternative to surgery in children with HOCM who are still symptomatic despite medical therapy.

  3. Comparison of surgical septal myectomy to medical therapy alone in patients with hypertrophic cardiomyopathy and syncope.

    PubMed

    Orme, Nicholas M; Sorajja, Paul; Dearani, Joseph A; Schaff, Hartzell V; Gersh, Bernard J; Ommen, Steve R

    2013-02-01

    The presence of syncope despite medical therapy in patients with hypertrophic cardiomyopathy (HC) is considered an indication for surgical myectomy; however, no study has examined the long-term effects on recurrent syncope and survival after surgery in these patients. We examined 239 patients with HC and a history of syncope who had undergone surgical myectomy (mean age 48 ± 17 years; 56% men). The patients were age- and gender-matched to patients with HC and syncope who were treated medically without myectomy (mean age 51 ± 16 years; 59% men). The median follow-up period was 4.7 years (0.8, 11.3). The recurrence rate of syncope was 11% in the myectomy patients and 40% in the medical group (p <0.0001). Multiple episodes of syncope, left ventricular outflow tract obstruction, and recent syncope were identified as baseline predictors of recurrent syncope. Survival free of all-cause mortality was greater for patients who had undergone surgical myectomy than for the medically treated patients (10-year estimate 82 ± 4% vs 69 ± 4%; p = 0.01). In conclusion, surgical myectomy in patients with HC and a history of syncope was associated with a reduction in recurrent syncope and increased survival.

  4. Myocardial deformation from tagged MRI in hypertrophic cardiomyopathy using an efficient registration strategy

    NASA Astrophysics Data System (ADS)

    Piella, G.; De Craene, M.; Oubel, E.; Larrabide, I.; Huguet, M.; Bijnens, B. H.; Frangi, A. F.

    2009-02-01

    This paper combines different parallelization strategies for speeding up motion and deformation computation by non-rigid registration of a sequence of images. The registration is performed in a two-level acceleration approach: (1) parallelization of each registration process using MPI and/or threads, and (2) distribution of the sequential registrations over a cluster. On a 24-node double quad-core Intel Xeon (2.66 GHz CPU, 16 GB RAM) cluster, the method is demonstrated to efficiently compute the deformation of a cardiac sequence reducing the computation time from more than 3 hours to a couple of minutes (for low downsampled images). It is shown that the distribution of the sequential registrations over the cluster together with the parallelization of each pairwise registration by multithreading lowers the computation time towards values compatible with clinical requirements (a few minutes per patient). The combination of MPI and multithreading is only advantageous for large input data sizes. Performances are assessed for the specific scenario of aligning cardiac sequences of taggedMagnetic Resonance (tMR) images, with the aim of comparing strain in healthy subjects and hypertrophic cardiomyopathy (HCM) patients. In particular, we compared the distribution of systolic strain in both populations. On average, HCM patients showed lower average values of strain with larger deviation due to the coexistence of regions with impaired deformation and regions with normal deformation.

  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. PMID:12611354

  6. Bilateral brachial plexus blocks in a patient of hypertrophic obstructive cardiomyopathy with hypertensive crisis.

    PubMed

    Pai, Rohini V Bhat; Hegde, Harihar V; Santhosh, McB; Roopa, S; Deshpande, Shrinivas S; Rao, P Raghavendra

    2013-01-01

    Hypertrophic obstructive cardiomyopathy (HOCM) is a challenge to anesthesiologists due to the complex pathophysiology involved and various perioperative complications associated with it. We present a 50-year-old man, a known case of HOCM, who successfully underwent emergency haemostasis, and debridement of the traumatically amputated right upper limb and the contused lacerated wound on the left forearm under bilateral brachial plexus blocks. His co-morbidities included hypertension (in hypertensive crisis) and diabetes mellitus. He was full stomach and also had an anticipated difficult airway. The management included invasive pressure monitoring and labetalol infusion for emergent control of blood pressure. The regional anaesthesia technique required careful consideration to the dosage of local anaesthetics and staggered performance of brachial plexus blocks on each of the upper limbs to avoid local anaesthetic toxicity. Even though bilateral brachial plexus blocks are rarely indicated, it seemed to be the most appropriate anaesthetic technique in our patient. With careful consideration of the local anaesthetic toxicity and meticulous technique, bilateral brachial plexus blocks can be successfully performed in those patients where general anaesthesia is deemed to be associated with higher risk.

  7. 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. PMID:9062893

  8. 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.

  9. Potential mechanisms of improvement after various treatments for hypertrophic obstructive cardiomyopathy.

    PubMed Central

    Leachman, R D

    1995-01-01

    In sum, systolic dysfunction of the ventricle associated with left ventricular outlet obstruction and often with mitral valve regurgitation may be improved by myotomy, myomectomy, mitral valve replacement, and perhaps by the creation of left bundle branch block via DDD right ventricular pacing. Diastolic dysfunction of the ventricle may be improved by prolonging the diastolic filling period, shortening the isovolumic relaxation period with calcium channel blocking drugs, or perhaps by altering the atrioventricular activation time with a DDD pacemaker. The symptoms and complications of associated arrhythmias may be improved by medication, particularly with beta-blockers, which tend to stabilize the atrial rhythm and perhaps the ventricular rhythms. In treating patients with demonstrated ventricular arrhythmias, other antiarrhythmic agents may be helpful. (Table II summarizes the abnormalities, causes, and treatments of hypertrophic obstructive cardiomyopathy.) Epicardial coronary atherosclerosis is not rare in these patients, and arteriographic confirmation may lead to improvement by surgical bypass treatment. Since stroke volume is nearly fixed, cardiac output depends very much on heart rate. For this reason, each patient needs to receive the appropriate dosage of medications to achieve the optimal heart rate for his or her own physiologic state. Images PMID:7647595

  10. 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

  11. Sodium-channel defects in benign familial neonatal-infantile seizures.

    PubMed

    Heron, Sarah E; Crossland, Kathryn M; Andermann, Eva; Phillips, Hilary A; Hall, Allison J; Bleasel, Andrew; Shevell, Michael; Mercho, Suha; Seni, Marie-Helene; Guiot, Marie-Christine; Mulley, John C; Berkovic, Samuel F; Scheffer, Ingrid E

    2002-09-14

    Ion-channel gene defects are associated with a range of paroxysmal disorders, including several monogenic epilepsy syndromes. Two autosomal dominant disorders present in the first year of life: benign familial neonatal seizures, which is associated with potassium-channel gene defects; and benign familial infantile seizures, for which no genes have been identified. Here, we describe a clinically intermediate variant, benign familial neonatal-infantile seizures, with mutations in the sodium-channel subunit gene SCN2A. This clinico-molecular correlation defines a new benign familial epilepsy syndrome beginning in early infancy, an age at which seizure disorders frequently have a sombre prognosis.

  12. Severe, persistent, and fatal T-cell immunodeficiency following therapy for infantile leukemia.

    PubMed

    Geerlinks, Ashley V; Issekutz, Thomas; Wahlstrom, Justin T; Sullivan, Kathleen E; Cowan, Morton J; Dvorak, Christopher C; Fernandez, Conrad V

    2016-11-01

    We describe five cases of children who completed chemotherapy for infantile acute lymphoblastic leukemia (ALL) and soon after were diagnosed with severe T-cell, non-HIV immunodeficiency, with varying B-cell and NK-cell depletion. There was near absence of CD3(+) , CD4(+) , and CD8(+) cells. All patients developed multiple, primarily opportunistic infections. Unfortunately, four patients died, although one was successfully treated by hematopoietic stem cell transplantation. These immunodeficiencies appeared to be secondary to intensive infant ALL chemotherapy. Our report highlights the importance of the early consideration of this life-threatening immune complication in patients who received chemotherapy for infantile ALL.

  13. Study of microvascular structure in keloid and hypertrophic scars: density of microvessels and the efficacy of three-dimensional vascular imaging.

    PubMed

    Kurokawa, Norifumi; Ueda, Koichi; Tsuji, Motomu

    2010-12-01

    We have investigated the blood vessels in keloids and hypertrophic scars, both morphologically and statistically. We also tried to construct three-dimensional images of blood vessels in a keloid and hypertrophic scar to clarify the vascular patterns. Keloids (n = 16) and hypertrophic scars (n = 12) were stained with haematoxylin and eosin, and immunostained with anti-CD31 antibody. The capillary density (number/1.0 mm(2)) and length of the major and minor axes were measured, and the major:minor axis ratio was calculated. Eighty serial sections were prepared from the preparations. Using image preparation software (Realia, INTAGE), the 80 input images were superimposed to construct a three-dimensional image of blood vessels in the tissue. We initially succeeded in constructing three-dimensional images of blood vessels in a keloid and hypertrophic scar. By statistical analysis of the vascular density and morphology, we clarified that there were fewer capillaries in keloids than in hypertrophic scars (p < 0.01), and that the vascular lumen was flattened. Capillaries in the central region of keloids tended to flat, compared with those in the marginal region. Three-dimensional images suggested that there was no microvascular communication in keloids; there was also an inadequate blood supply in keloid tissue. These findings may be a result of the growth of collagen and fibroblasts with keloid maturation.

  14. The therapy of infantile malignant brain tumors: current status?

    PubMed

    Kalifa, Chantal; Grill, Jacques

    2005-12-01

    Malignant brain tumors are not uncommon in infants as their occurrence before the age of three represents 20-25% of all malignant brain tumors in childhood [1]. Genetic predisposition to infantile malignant brain tumors are known in Gorlin syndrome for example who present with desmoplastic medulloblastoma in about 5% of the affected patients. In addition, sequelae from tumor and its treatment are more severe at this age [2]. Thus, malignant brain tumors represent a true therapeutic challenge in neuro-oncology. Before the era of modern imaging and modern neurosurgery these malignant brain tumors were misdiagnosed or could not benefit of the surgical procedures as well as older children because of increased risks in this age group. Since the end of the 80s, noninvasive imaging procedures produce accurate diagnosis of brain tumors and improvement in neurosurgery, neuroanesthesia and perioperative intensive care permit safe tumor resections or at least biopsies. Consequently, the pediatric oncologists are more often confronted with very young children who need a complementary treatment. Before the development of specific approaches for this age group, these children received the same kind of treatment than the older children did, but their survival and quality of life were significantly worse. The reasons of these poor results were probably due in part to the fear of late effects induced by radiation therapy, leading to decrease the necessary doses of irradiation which increased treatment failures without avoiding treatment related complications [3]. At the end of the 80s, pilot studies were performed using postoperative chemotherapy in young medulloblastoma patients. Van Eys treated 12 selected children with medulloblastoma with MOPP regimen and without irradiation; 8 of them were reported to be long term survivors [4]. Subsequently, the pediatric oncology cooperative groups studies have designed therapeutic trials for very young children with malignant brain tumors

  15. Propranolol treatment of infantile hemangioma endothelial cells: A molecular analysis.

    PubMed

    Stiles, Jessica; Amaya, Clarissa; Pham, Robert; Rowntree, Rebecca K; Lacaze, Mary; Mulne, Arlynn; Bischoff, Joyce; Kokta, Victor; Boucheron, Laura E; Mitchell, Dianne C; Bryan, Brad A

    2012-10-01

    Infantile hemangiomas (IHs) are non-malignant, largely cutaneous vascular tumors affecting approximately 5-10% of children to varying degrees. During the first year of life, these tumors are strongly proliferative, reaching an average size ranging from 2 to 20 cm. These lesions subsequently stabilize, undergo a spontaneous slow involution and are fully regressed by 5 to 10 years of age. Systemic treatment of infants with the non-selective β-adrenergic receptor blocker, propranolol, has demonstrated remarkable efficacy in reducing the size and appearance of IHs. However, the mechanism by which this occurs is largely unknown. In this study, we sought to understand the molecular mechanisms underlying the effectiveness of β blocker treatment in IHs. Our data reveal that propranolol treatment of IH endothelial cells, as well as a panel of normal primary endothelial cells, blocks endothelial cell proliferation, migration, and formation of the actin cytoskeleton coincident with alterations in vascular endothelial growth factor receptor-2 (VEGFR-2), p38 and cofilin signaling. Moreover, propranolol induces major alterations in the protein levels of key cyclins and cyclin-dependent kinase inhibitors, and modulates global gene expression patterns with a particular affect on genes involved in lipid/sterol metabolism, cell cycle regulation, angiogenesis and ubiquitination. Interestingly, the effects of propranolol were endothelial cell-type independent, affecting the properties of IH endothelial cells at similar levels to that observed in neonatal dermal microvascular and coronary artery endothelial cells. This data suggests that while propranolol markedly inhibits hemangioma and normal endothelial cell function, its lack of endothelial cell specificity hints that the efficacy of this drug in the treatment of IHs may be more complex than simply blockage of endothelial function as previously believed.

  16. MRI Verification of a Case of Huge Infantile Rhabdomyoma

    PubMed Central

    Ramadani, Naser; Kreshnike, Kreshnike Dedushi; Muçaj, Sefedin; Kabashi, Serbeze; Hoxhaj, Astrit; Jerliu, Naim; Bejiçi, Ramush

    2016-01-01

    Introduction: Cardiac rhabdomyoma is type of benign myocardial tumor that is the most common fetal cardiac tumor. Cardiac rhabdomyomas are usually detected before birth or during the first year of life. They account for over 60% of all primary cardiac tumors. Case report: A 6 month old child with coughing and obstruction in breathing, was hospitalized in the Pediatric Clinic in UCCK, Pristine. The difficulty of breathing was heard and the pathological noise of the heart was noticed from the pediatrician. In the echo of the heart at the posterior and apico-lateral part of the left ventricle a tumoral mass was presented with the dimensions of 56 × 54 mm that forwarded the contractions of the left ventricle, the mass involved also the left ventricle wall and was not vascularized. The right ventricle was deformed and with the shifting of the SIV on the right the contractility was preserved. Aorta, the left arch and AP were normal with laminar circulation. The pericard was presented free. Radiography of thoracic organs was made; it resulted on cardiomegaly and significant bronchovascular drawing. It was completed with an MRI and it resulted on: Cardiomegaly due to large tumoral mass lesion (60×34 mm) involving lateral wall of left ventricle. It was isointense to the muscle on T1W images, markedly hyperintense on T2W images. There were a few septa or bant like hypointensities within lesion. On postcontrast study it showed avid enhancement. The left ventricle volume was decreased. Mild pericardial effusion was also noted. Surgical intervention was performed and it resulted on the histopathological aspect as a huge infantile rhadbomyoma. Conclusion: In most cases no treatment is required and these lesions regress spontaneously. Patients with left ventricular outflow tract obstruction or refractory arrhythmias respond well to surgical excision. Rhabdomyomas are frequently diagnosed by means of fetal echocardiography during the prenatal period. PMID:27147810

  17. The Temporal Impulse Response Function in Infantile Nystagmus

    PubMed Central

    Bedell, Harold E.; Ramamurthy, Mahalakshmi; Patel, Saumil S.; Subramaniam, Shobana; Vu-Yu, Lan-Phuong; Tong, Jianliang

    2008-01-01

    Despite rapid to-and-fro motion of the retinal image that results from their incessant involuntary eye movements, persons with infantile nystagmus (IN) rarely report the perception of motion smear. We performed two experiments to determine if the reduction of perceived motion smear in persons with IN is associated with an increase in the speed of the temporal impulse response. In Experiment 1, increment thresholds were determined for pairs of successively presented flashes of a long horizontal line, presented on a 65 cd/m2 background field. The stimulus-onset asynchrony (SOA) between the first and second flash varied from 5.9 to 234 ms. In experiment 2, temporal contrast sensitivity functions were determined for a 3 cpd horizontal square wave grating that underwent counterphase flicker at temporal frequencies between 1 and 40 Hz. Data were obtained for 2 subjects with predominantly pendular IN and 8 normal observers in Experiment 1 and for 3 subjects with IN and 4 normal observers in Experiment 2. Temporal impulse response functions (TIRFs) were estimated as the impulse response of a linear second-order system that provided the best fit to the increment threshold data in Experiment 1 and to the temporal contrast sensitivity functions in Experiment 2. Estimated TIRFs of the subjects with pendular IN have natural temporal frequencies that are significantly faster than those of normal observers (ca. 13 vs. 9 Hz), indicating an accelerated temporal response to visual stimuli. This increase in response speed is too small to account by itself for the virtual absence of perceived motion smear in subjects with IN, and additional neural mechanisms are considered. PMID:18550143

  18. 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

  19. Cardiac Troponin and Tropomyosin: Structural and Cellular Perspectives to Unveil the Hypertrophic Cardiomyopathy Phenotype

    PubMed Central

    Marques, Mayra de A.; de Oliveira, Guilherme A. P.

    2016-01-01

    Inherited myopathies affect both skeletal and cardiac muscle and are commonly associated with genetic dysfunctions, leading to the production of anomalous proteins. In cardiomyopathies, mutations frequently occur in sarcomeric genes, but the cause-effect scenario between genetic alterations and pathological processes remains elusive. Hypertrophic cardiomyopathy (HCM) was the first cardiac disease associated with a genetic background. Since the discovery of the first mutation in the β-myosin heavy chain, more than 1400 new mutations in 11 sarcomeric genes have been reported, awarding HCM the title of the “disease of the sarcomere.” The most common macroscopic phenotypes are left ventricle and interventricular septal thickening, but because the clinical profile of this disease is quite heterogeneous, these phenotypes are not suitable for an accurate diagnosis. The development of genomic approaches for clinical investigation allows for diagnostic progress and understanding at the molecular level. Meanwhile, the lack of accurate in vivo models to better comprehend the cellular events triggered by this pathology has become a challenge. Notwithstanding, the imbalance of Ca2+ concentrations, altered signaling pathways, induction of apoptotic factors, and heart remodeling leading to abnormal anatomy have already been reported. Of note, a misbalance of signaling biomolecules, such as kinases and tumor suppressors (e.g., Akt and p53), seems to participate in apoptotic and fibrotic events. In HCM, structural and cellular information about defective sarcomeric proteins and their altered interactome is emerging but still represents a bottleneck for developing new concepts in basic research and for future therapeutic interventions. This review focuses on the structural and cellular alterations triggered by HCM-causing mutations in troponin and tropomyosin proteins and how structural biology can aid in the discovery of new platforms for therapeutics. We highlight the

  20. Relation Between Temperature Extremes and Symptom Exacerbation in Patients With Hypertrophic Cardiomyopathy.

    PubMed

    Bois, John P; Adams, Jonathon C; Kumar, Gautam; Ommen, Steve R; Nishimura, Rick A; Klarich, Kyle W

    2016-03-15

    Warm temperatures induce peripheral vasodilation, decrease afterload, and may concurrently increase the left ventricular outflow tract (LVOT) gradient. We aimed to assess the impact of subjective ambient temperature on hypertrophic cardiomyopathy (HC) symptoms and determine whether they were associated with LVOT gradient, patient quality of life (QOL), and risk of sudden cardiac death (SCD). We identified consecutive patients with HC presenting to a tertiary referral center. Of the 173 patients in the study, 143 (83%) had HC symptoms, with ambient temperature change worsening symptoms for 72 patients (50%). Symptom exacerbation occurred only with heat for 57 (79%), whereas symptoms were exacerbated with cold only or with cold and heat equally for 15 (21%). Patients affected by any temperature exacerbation more commonly were women (p = 0.009), had a lower QOL (p = 0.04), had a family history of HC (p = 0.007), or underwent myectomy (p = 0.01). A greater proportion of patients with heat-only exacerbation had a family history of HC (p = 0.005) and SCD (p = 0.05). The presence of an LVOT gradient either at rest or with provocation was similar in all groups. In conclusion, although no appreciable difference in LVOT gradients were observed between patient groups, approximately half of the patients with HC reporting symptoms at baseline noted worsening of symptoms with temperature changes, with >75% describing heat-induced symptom exacerbation. Furthermore, affected patients more frequently were women, underwent surgical intervention and device implantation, and had an overall lower QOL.