Παρασκευή 22 Απριλίου 2016

Inside EMS Podcast: Learning from our EMS history and pioneers

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In this Inside EMS Podcast episode, co-hosts Chris Cebollero and Kelly Grayson are joined at the guest table by EMS1 columnist Mike Rubin, a paramedic in Nashville, Tenn. Rubin writes the EMS Pioneers column and discusses the importance of keeping EMS history intact. Individuals that are being spotlighted as EMS Pioneers have at least 30 years of EMS service.

Chris and Kelly also talk about a viral photo of an EMT mowing a lawn after an elderly man passed out. They explain how a picture is worth a thousand words and proves that going above and beyond the call of duty is what makes a difference to your patients and defines you as a hero in EMS.



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Quick Clip: Going above and beyond the call in EMS

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In this week's Quick Clip, co-hosts Chris Cebollero and Kelly Grayson talk about a viral photo of an EMT mowing a lawn after an elderly man passed out.

The 87-year-old man, who refused to let anyone else mow his lawn, was working on his yard when he pushed too hard and passed out. Neighbors saw what happened and called 911. After the call, the man's son noticed one of the EMTs put the gurney away and the other finished mowing the lawn.

In this case, Chris and Kelly said, a picture is worth a thousand words and proves that going above and beyond the call of duty is what makes a difference to your patients and defines you as a hero in EMS.



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Changes of HBV DNA After Chemoembolization for Hepatocellular Carcinoma and the Efficacy of Antiviral Treatment

Abstract

Unlike systemic chemotherapy for hematological malignancies with hepatitis B virus (HBV) infection, transarterial chemoembolization (TACE) for HBV-related hepatocellular carcinoma (HCC) has only recently been reported to cause HBV reactivation and subsequent hepatitis. Most patients with HBV-related HCC have an underlying disease with liver fibrosis or cirrhosis, and TACE may potentially induce HBV reactivation and liver decompensation. Currently, there are no clinical guidelines for managing TACE-caused HBV reactivation. In this review, we summarize the changes of HBV status and liver function after TACE and the effect of antiviral treatment before, during, or after TACE.



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Immigrant Generation and Sexual Initiation Among a Diverse Racial/Ethnic Group of Urban Youth

Abstract

Foreign-born youth have a lower risk of sexual initiation than native born youth, yet most research has focused on Latinos. An ethnically diverse sample of 200, 14–21 year-old youth were surveyed in Denver in 2014. We used logistic regression models to predict the odds of intentions to have sex and sexual experience, adding covariates that could account for differences in outcomes by immigrant generation. First generation youth were less likely to intend to have sex and to have sexual experience than third generation youth after controlling for racial/ethnic group, suggesting that first generation immigrants of multiple racial/ethnic groups, not just Latinos alone, have a lower risk for sexual initiation. Having a supportive community reduced the odds of sexual intentions and sexual experience. Our findings support future research using a larger sample of black, white, and Asian immigrant youth to corroborate and to explore reasons behind these associations.



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KLF17 attenuates estrogen receptor α-mediated signaling by impeding ERα function on chromatin and determines response to endocrine therapy

Publication date: Available online 21 April 2016
Source:Biochimica et Biophysica Acta (BBA) - Gene Regulatory Mechanisms
Author(s): Amjad Ali, Irina Ielciu, Huda Mohammad Alkreathy, Abid Ali Khan
Luminal-like breast cancer expressing estrogen receptor α (ERα) is among aggressive breast tumor subtypes and show poor prognosis. KLF17 play key role in breast cancer inhibition. However, the underlying mechanisms by which KLF17 control breast cancer progression remains unknown. Here, we show that KLF17 antagonizes ERα-dependent signaling to suppress breast cancer progression. KLF17 alters ERα-binding pattern throughout the genome and co-localizes with ERα on chromatin. Mechanistically, KLF17 forms a complex with ERα that interferes with ERα binding on chromatin and thereby attenuates ERα-dependent pathway. KLF17 increases the methylation status of ERE target promoters by recruiting transcriptional corepressor N-CoR/HDAC1 complex and prevents RNA polymerase II binding to suppress ERα-dependent transcriptional activation. Importantly, KLF17 preoccupy a subset of ERE target gene promoters and inhibits interaction of ERα with chromatin. Conversely, estrogen signaling suppresses KLF17 transcription via ERα/HDAC1-dependent mechanism. KLF17 expression negatively correlates with ERα target genes in multiple breast cancer samples. Enhanced KLF17 expression sensitizes ERα-positive breast cancer cells to endocrine therapy. KLF17 expression is downregulated in luminal breast cancer subtypes and is associated with poor survival rates in breast cancer patients. Taken together, these results indicate that KLF17-ERα interaction plays potential role in inhibition of ERα-dependent breast cancer progression and suggest an improved strategy for treatment of ERα-positive breast cancer patients.

Graphical abstract

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Efficacy of a Church-Based Culturally Tailored Program to Promote Completion of Advance Directives Among Asian Americans

Abstract

Having an Advance Directive (AD) can help to guide medical decision-making. Asian Americans (AA) are less likely than White Americans to complete an AD. This pilot study investigated the feasibility and efficacy of a church-based intervention to increase knowledge and behavior change related to AD among Chinese and Vietnamese Americans. This study utilized a single group pre- and post-intervention design with 174 participants from 4 churches. Domain assessed: demographics; AD-related knowledge, beliefs, attitudes, and intentions; AD completion; and conversations with a healthcare proxy. Data were analyzed using Chi square and multiple logistic regression techniques. We observed significant increases in participants' AD-related knowledge, intentions, and a gain in supportive beliefs and attitudes about AD, resulting in 71.8 % AD completion, and 25.0 % having had a proxy conversation. Providing culturally-tailored intervention and step-by-step guidance can help to achieve significant changes in AD related knowledge and behavior in AA church goers.



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The society for craniofacial genetics and developmental biology 38th annual meeting

The mission of the Society for Craniofacial Genetics and Developmental Biology (SCGDB) is to promote education, research, and communication about normal and abnormal development of the tissues and organs of the head. The SCGDB welcomes as members undergraduate students, graduate students, post doctoral researchers, clinicians, orthodontists, scientists, and academicians who share an interest in craniofacial biology. Each year our members come together to share their novel findings, build upon, and challenge current knowledge of craniofacial biology. © 2016 Wiley Periodicals, Inc.



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Racial differences in dietary changes and quality of life after a colorectal cancer diagnosis: a follow-up of the Study of Outcomes in Colorectal Cancer Survivors cohort

American Journal of Clinical Nutrition

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Nested case-control study: Hepatocellular carcinoma risk after hepatitis B surface antigen seroclearance

Alimentary Pharmacology and Therapeutics

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Temporal changes in pediatric gastroenteritis after rotavirus vaccination in Quebec

The Pediatric Infectious Disease Journal

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Changes in treatment patterns for patients with locally advanced rectal cancer in the United States over the past decade: An analysis from the National Cancer Data Base

Cancer

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A genomic case study of mixed fibrolamellar hepatocellular carcinoma

Annals of Oncology

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A Phase I study of olaparib and irinotecan in patients with colorectal cancer: Canadian Cancer Trials Group IND 187

Investigational New Drugs

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The association of drugs with severity and specific causes of acute lower gastrointestinal bleeding: A prospective study

Journal of Clinical Gastroenterology

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Quality of life in screen-detected celiac disease patients in the United States

Journal of Clinical Gastroenterology

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Are gastroenterologists willing to implement the “predict resect and discard” management strategy for diminutive colorectal polyps?: results from a national survey

Journal of Clinical Gastroenterology

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First-line treatment with FOLFOXIRI for advanced pancreatic cancer in clinical practice: Patients' outcome and analysis of prognostic factors

International Journal of Cancer

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Long-term outcomes of endoscopic multiband mucosectomy for early esophageal squamous cell neoplasia: a retrospective single-center study

Gastrointestinal Endoscopy

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Improved survival among all interferon-α-treated patients in HCV-002 a veterans affairs hepatitis C cohort of 2211 patients despite increased cirrhosis among nonresponders

Digestive Diseases and Sciences

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Fat intake and risk of ulcerative colitis: Systematic review and dose-response meta-analysis of epidemiological studies

Journal of Gastroenterology and Hepatology

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Corticotropin-releasing factor increases ascending colon volume after a fructose test meal in healthy humans: a randomized controlled trial

American Journal of Clinical Nutrition

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Intraductal biopsies in indeterminate biliary stricture: Evaluation of histopathological criteria in fluoroscopy- vs. cholangioscopy guided technique

Digestive and Liver Diseases

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Epirubicin-based compared with docetaxel-based chemotherapy for advanced gastric carcinoma: A systematic review and meta-analysis

Critical Reviews in Oncology/Hematology

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A historical perspective on the discovery and elucidation of the hepatitis B virus

Antiviral Research

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Broad anti-hepatitis C virus (HCV) antibody responses are associated with improved clinical disease parameters in chronic HCV infection

Journal of Virology

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Autosomal recessive truncating MAB21L1 mutation associated with a syndromic scrotal agenesis

Abstract

We report on a boy with a rare malformative association of scrotum agenesis, ophthalmological anomalies, cerebellar malformation, facial dysmorphism and global development delay. The reported patient was carrying a homozygous frameshift in MAB21L1 detected by whole-exome sequencing, considered as the most likely disease-causing variant. Mab21l1 knockout mice present a strikingly similar malformative association of ophthalmological malformations of the anterior chamber and preputial glands hypoplasia. We hypothesize that MAB21L1 haploinsufficiency cause a previously undescribed syndrome with scrotal agenesis, ophthalmological anomalies, facial dysmorphism and gross psychomotor delay as remarkable hallmarks. Four cases from the literature were reported with features suggestive of a similar and recognizable clinical entity. We hypothesize that MAB21L1 should be the culprit gene in these patients.

Thumbnail image of graphical abstract

Graphical Abstract



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Autosomal recessive mutations in THOC6 cause intellectual disability: Syndrome delineation requiring forward and reverse phenotyping

Abstract

THOC6 is a part of the THO complex, which is involved in coordinating mRNA processing with export. The THO complex interacts with additional components to form the larger TREX complex (transcription export complex). Previously, a homozygous missense mutation in THOC6 in the Hutterite population was reported in association with syndromic intellectual disability. Using exome sequencing, we identified three unrelated patients with bi-allelic mutations in THOC6 associated with intellectual disability and additional clinical features. Two of the patients were compound heterozygous for a stop and a missense mutation, and the third was homozygous for a missense mutation; the missense mutations were predicted to be pathogenic by in silico analysis and modelling. Clinical features of the three newly identified patients and those previously reported are reviewed; intellectual disability is moderate to severe, and malformations are variable including renal and heart defects, cleft palate, microcephaly, and corpus callosum dysgenesis. Facial features are variable and include deep set eyes, a long nose with overhanging columella, and micrognathia. These subtle facial features render the diagnosis difficult to make in isolation with certainty. Our results expand the mutational and clinical spectrum of this rare disease, confirm that THOC6 is an intellectual disability causing gene, while providing insight into the importance of the THO complex in neurodevelopment.

Thumbnail image of graphical abstract

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The long-term efficacy and safety of fecal microbiota transplant for recurrent severe and complicated clostridium difficile infection in 146 elderly individuals

Journal of Clinical Gastroenterology

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The half-life of infusion fluids: An educational review.

An understanding of the half-life (T1/2) of infused fluids can help prevent iatrogenic problems such as volume overload and postoperative interstitial oedema. Simulations show that a prolongation of the T1/2 for crystalloid fluid increases the plasma volume and promotes accumulation of fluid in the interstitial fluid space. The T1/2 for crystalloids is usually 20 to 40 min in conscious humans but might extend to 80 min or longer in the presence of preoperative stress, dehydration, blood loss of

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Spondyloepimetaphyseal dysplasia with neurodegeneration associated with AIFM1 mutation a novel phenotype of the mitochondrial disease

ABSTRACT

In 1999, based on a single family, spondyloepimetaphyseal dysplasia (SEMD) with mental retardation (MR) was described as a novel syndrome with likely X-linked recessive inheritance and unknown molecular defect (MIM 300232). Our purpose was to search for the causative defect in the originally described family and in an independently ascertained second family. All patients had slowly progressive neurodegeneration with central and peripheral involvement and identical skeletal dysplasia. Whole exome sequencing performed in two subjects showed a single plausible candidate – the p.Asp237Gly variant in AIFM1 (chr. Xq26.1). The p.Asp237Gly segregated with disease as indicated by linkage analysis (maximum lod score at theta 0 for the two families was 3.359). This variant had not been previously reported and it was predicted to be pathogenic by Polyphen2, SIFT, MutationTaster and Mutation Assessor. AIFM1 encodes mitochondria associated apoptosis inducing factor. The AIFM1 gene has been linked with COXPD6 encephalomyopathy (MIM 300816), Cowchock syndrome (MIM 310490) and X-linked deafness with neuropathy (DFNX5, MIM 300614), none of which are similar to SEMD-MR. Our results place SEMD as the third instance of a skeletal phenotype associated with a mitochondrial disease (the others being EVEN-PLUS syndrome caused by mutations of HSPA9 and CODAS syndrome due to LONP1 mutations).

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Pedigrees of SEMD-MD families White arrows – subjects studied by WES AIFM1: p.Asp237Gly status: −/− wild-type female, +/− female carrier, −/ wild-type hemizygous male, +/ male with hemizygous mutation

AIFM1 domain structure showing p.D237G (black) and mutations previously associated with other diseases (DFNX5 –green, Cowchock syndrome – blue, COXPD6 -pink)



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Review: emerging anti-fibrotic therapies in the treatment of non-alcoholic steatohepatitis

Alimentary Pharmacology and Therapeutics

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Social anxiety and autism spectrum traits among adult FMR1 premutation carriers

ABSTRACT

Behavioral symptoms and traits have been proposed as early markers in neurodegenerative diseases. The aim of this study was to evaluate social anxiety and autism in FMR1 premutation carriers using the Social Phobia Inventory (SPIN) and the Autism-Spectrum Quotient (AQ) questionnaires. Fifty-nine premutation carriers were compared with 50 controls. The SPIN test showed statistically significant differences between female but not male carriers. The AQ questionnaire found statistically significant differences between premutation carriers and controls in the total AQ as well as in the social skills and attention switching subdomains. A gender effect was only observed for the social skills subdomain. Spearman's correlation analysis revealed a moderately positive correlation with the total AQ scores as well as the social skills and communication subdomains. Our results show that FXTAS patients have higher AQ scores. Moreover, this is the first study to find statistically significant differences between FXTAS and no-FXTAS premutation carriers in the communication and the imagination subdomains, suggesting that FXTAS patients present a broader autistic phenotype than premutation carriers without FXTAS. Based on our results a wide range of behavioral/psychiatric traits should be included within the broader phenotypic presentation of individuals with the FMR1 premutation.

Thumbnail image of graphical abstract

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Can eHealth Technology Enhance the Patient Provider Relationship in Rehabilitation?

Publication date: Available online 21 April 2016
Source:Archives of Physical Medicine and Rehabilitation
Author(s): Sophia Wang, Dan Blazer, Helen Hoenig




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Editorial Board

Publication date: May 2016
Source:Archives of Physical Medicine and Rehabilitation, Volume 97, Issue 5





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Table of Contents

Publication date: May 2016
Source:Archives of Physical Medicine and Rehabilitation, Volume 97, Issue 5





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Editors' Selections From This Issue: Volume 97 / Number 5 / May 2016

Publication date: May 2016
Source:Archives of Physical Medicine and Rehabilitation, Volume 97, Issue 5





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Masthead

Publication date: May 2016
Source:Archives of Physical Medicine and Rehabilitation, Volume 97, Issue 5





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Request for Proposals

Publication date: May 2016
Source:Archives of Physical Medicine and Rehabilitation, Volume 97, Issue 5





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Measurement Characteristics and Clinical Utility of the American Shoulder and Elbow Surgeons Standardized Shoulder Assessment Form in Individuals With Orthopedic Shoulder Dysfunction

Publication date: May 2016
Source:Archives of Physical Medicine and Rehabilitation, Volume 97, Issue 5
Author(s): Kaitlyn Sly, Alexis Williams, Charles Sheets




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Perceptions of person-centered care following spinal cord injury

Publication date: Available online 21 April 2016
Source:Archives of Physical Medicine and Rehabilitation
Author(s): Allen W. Heinemann, Sherri L. LaVela, Bella Etingen, Ana Miskovic, Sara M. Locatelli, Holly DeMark Neumann, David Chen
Objectives(1) Evaluate perceptions of person-centered care (PCC) in individuals with traumatic spinal cord injury (SCI), and (2) examine perceived differences in PCC concepts between patients continuing to receive any services from an SCI Model Systems (SCIMS) facility vs. those who do not.DesignWe used a cross-sectional design, mailed a paper survey, and followed-up with a second mailing to non-respondents after 4 weeks.SettingCommunity.ParticipantsParticipants were individuals who received initial rehabilitation at a SCIMS facility and agreed to participate in this research study (n=326). We distinguished respondents who received any SCIMS outpatient services in the past 2 years (SCIMS users, n=179) or longer ago (SCIMS non-users, n=134).InterventionsNot applicable.Main Outcome MeasuresParticipants completed the Patient Activation Measure (PAM), the Patient Assessment of Chronic Illness Care (PACIC), the Global Practice Experience measure, and 5 Press-Ganey questions that assessed key elements of patient- and family-centered care.ResultsPatient perspectives of chronic illness care were more positive in the SCIMS users than non-users (2.91 v. 3.15, p<0.05); the difference is attributable primarily to higher subscale scores on goal setting and tailoring. The SCIMS users and non-users did not differ in terms of PAM overall score or activation stage, Global Practice Experience, or Press-Ganey scores.ConclusionsSCIMS users and non-users differed on perceptions of chronic illness care (largely the goal setting and tailoring component), which were more favorable for Model System users than non-users. Results can guide strategies to enhance PCC practices following inpatient rehabilitation.



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Use of Dexmedetomidine Along With Local Infiltration Versus General Anesthesia for Burr Hole and Evacuation of Chronic Subdural Hematoma (CSDH).

Background: In neurosurgery, chronic subdural hematoma (CSDH) is a very common clinical entity. Both general anesthesia (GA) and local anesthesia with or without sedation are used for the surgical treatment of CSDH. Sedation with dexmedetomidine has been safely used for various diagnostic and therapeutic procedures. However, its effectiveness against GA has not been evaluated for surgical treatment of CSDH. We tried to compare dexmedetomidine sedation technique with the GA technique for surgical treatment of CSDH. Materials and Methods: In this prospective-randomized study, 76 patients undergoing surgery for CSDH were divided into 2 groups using computer-generated randomized tables; Dex group ([n=38]; received IV bolus of dexmedetomidine 1 mcg/kg over 10 min followed by maintenance infusion 0.5 mcg/kg/h) and GA group ([n=38; of which 4 patients were dropped out]; received endotracheal intubation with balanced anesthesia). Results: Both anesthesia techniques (Dex group; n=35/38 [92.1%] and GA group; n=34/34 [100%]) were successfully used for surgical treatment of CSDH. Significantly less time for anesthesia onset (14.2+/-4.2 vs. 20.5+/-3.4 min, P=0.001), total duration of surgery (77.1+/-23.9 vs. 102.7+/- 24.8 min, P=0.001), and recovery from anesthesia (7.4+/-5.9 vs. 13.2+/-6.5 min, P=0.004) was observed in the Dex group compared with GA group. Perioperative hemodynamic fluctuations were more common in the GA group as against the Dex group. Postoperative complications (n=2 vs. 9, P=0.021) and length of hospital stay (1.05+/-0.23 vs. 1.79+/-2.1 d, P=0.007) were significantly less in the Dex group as against the GA group. Conclusions: Dexmedetomidine sedation with local anesthesia is a safe and effective technique for burr hole and evacuation of CSDH. It is associated with significantly shorter operative time, lesser hemodynamic fluctuations, postoperative complications, and length of hospital stay, thus it is a better alternative to GA. Copyright (C) 2016 Wolters Kluwer Health, Inc. All rights reserved

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Respiratory system involvement in Costello syndrome

Costello syndrome (CS) is a multisystem disorder caused by heterozygous germline mutations in the HRAS proto-oncogene. Respiratory system complications have been reported in individuals with CS, but a comprehensive description of the full spectrum and incidence of respiratory symptoms in these patients is not available. Here, we report the clinical course of four CS patients with respiratory complications as a major cause of morbidity. Review of the literature identified 56 CS patients with descriptions of their neonatal course and 17 patients in childhood/adulthood. We found that in the neonatal period, respiratory complications are seen in approximately 78% of patients with transient respiratory distress reported in 45% of neonates. Other more specific respiratory diagnoses were reported in 62% of patients, the majority of which comprised disorders of the upper and lower respiratory tract. Symptoms of upper airway obstruction were reported in CS neonates but were more commonly diagnosed in childhood/adulthood (71%). Analysis of HRAS mutations and their respiratory phenotype revealed that the common p.Gly12Ser mutation is more often associated with transient respiratory distress and other respiratory diagnoses. Respiratory failure and dependence on mechanical ventilation occurs almost exclusively with rare mutations. In cases of prenatally diagnosed CS, the high incidence of respiratory complications in the neonatal period should prompt anticipatory guidance and development of a postnatal management plan. This may be important in cases involving rarer mutations. Furthermore, the high frequency of airway obstruction in CS patients suggests that otorhinolaryngological evaluation and sleep studies should be considered. © 2016 Wiley Periodicals, Inc.



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Confirmation of TENM3 involvement in autosomal recessive colobomatous microphthalmia

Anophthalmia and microphthalmia are the most severe malformations of the eye, referring to a congenital absence, and a reduced size of the eyeball respectively. More than 20 genes have been shown to be mutated in patients with syndromic and non-syndromic forms of anophthalmia–microphthalmia. In a recent study combining autozygome and exome analysis, a homozygous loss of function mutation in TENM3 (previously named ODZ3) was reported in two siblings with isolated bilateral colobomatous microphthalmia from a consanguineous Saudi family. Herein, we report a third patient (not related to the previously reported family) with bilateral colobomatous microphthalmia and developmental delay in whom genetic studies identified a homozygous TENM3 splicing mutation c.2968-2A>T (p.Val990Cysfs*13). This report supports the association of TENM3 mutations with colobomatous microphthalmia and expands the phenotypic spectrum associated with mutations in this gene. © 2016 Wiley Periodicals, Inc.



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