Publications by authors named "Carmelo Morales Angulo"

23 Publications

  • Page 1 of 1

Audiovestibular symptoms in patients with idiopathic hypertrophic pachymeningitis: Systematic literature review.

Acta Otorrinolaringol Esp 2021 Feb 26. Epub 2021 Feb 26.

Unidad de Otoneurología, Servicio de Otorrinolaringología, Hospital Universitario Marqués de Valdecilla, Santander (Cantabria), España.

Background And Objective: Hypertrophic pachymeningitis is an infrequent inflammatory disease resulting in thickening and fibrosis of the dura mater. In most cases, the cause in unknown and is called idiopathic hypertrophic pachymeningitis (IHP). Audiovestibular symptoms are infrequent and the pathogenesis is still unclear.

Materials And Methods: A systematic literature review of cases with IHP and vestibular symptoms from 2000 to February 2020 was performed. PRISMA Checklist was followed and PubMED database, Web of Science and Cochrane library were searched. We report a case of an adolescent with a diagnosis of vestibular neuritis in the context of IHP attended in our clinic.

Results: We reviewed 5 articles related to IHP and vestibular disorders. A total of 7 cases (5 women and 2 men), with ages between 27 and 68 years with IHP were found. They all had audiovestibular symptoms. In contrast to our patient, uni or bilateral neurosensorial hearing loss was reported in all cases. Furthermore, there is no other case report published describing the association between IHP and vestibular neuritis. High dose steroids improved symptoms in 85.7% of the patients.

Conclusion: Vestibular symptoms in IHP are uncommon and the pathogenesis is still debatable. Entrapment of nerves in the internal auditory canal and secondary neuronal damage could be suspected as the main cause of hearing and vestibular loss.
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http://dx.doi.org/10.1016/j.otorri.2020.08.008DOI Listing
February 2021

Retropharyngeal Abscess. Clinical Review of Twenty-five Years.

Acta Otorrinolaringol Esp 2021 Mar-Apr;72(2):71-79. Epub 2020 May 30.

Servicio de Otorrinolaringología, Hospital Universitario Marqués de Valdecilla, IDIVAL, Universidad de Cantabria, Santander, España.

Introduction: Retropharyngeal abscess is a serious condition. Its rare occurrence, thus sharing symptoms with other processes, make it a diagnostic challenge for the clinician. Therefore, it is critical to make an early diagnosis to prevent delaying treatment and avoid complications.

Objectives: To gain knowledge of the epidemiology, pathogenesis, clinical manifestations, the most commonly implicated microorganisms, the type of treatment used, morbidity and mortality of retropharyngeal abscesses at a tertiary institution over the last 25 years.

Methods: A retrospective study was conducted by reviewing medical records of all patients diagnosed with retropharyngeal abscess in a single centre between 1 January 1990 and 31 February 2016. Thirty-three patients were included in our study. Data such as personal history, present illness, diagnoses and treatment procedures were collected from the medical records.

Results: The incidence during the years of study was 0.2 cases/100 000 inhabitants/year. Personal medical histories most often associated were alcoholism, smoking, diabetes and obesity. The most common aetiology found was impaction of a foreign body (especially fishbone). The most common presenting symptoms were odynophagia and neck pain accompanied by fever. Preventive tracheotomy was performed in the initial management of the patient in 9 cases (27%). The most frequent complication was descending necrotizing mediastinitis. Surgical drainage of the abscess was required in 27 patients (82%), especially with external approaches (17 cases). Two patients had sequelae: paralysis of unilateral vocal cord and Horner's syndrome. No mortality was observed in the patients of the study.

Conclusion: Retropharyngeal abscesses must be considered medical-surgical emergencies as they are likely to produce serious complications. We must pay attention to the warning symptoms such as odynophagia and cervical pain, associated or otherwise with dyspnoea, stridor, trismus, and neck stiffness. Advances in diagnostic and therapeutic procedures together with advances in critical care have been a key factor in improving the prognosis and mortality of these patients.
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http://dx.doi.org/10.1016/j.otorri.2020.01.005DOI Listing
May 2020

Head and neck cancer screening in patients eligible for liver transplantation.

Acta Otorrinolaringol Esp 2020 Jul - Aug;71(4):249-252. Epub 2020 May 17.

Servicio de Otorrinolaringología, Hospital Universitario Marqués de Valdecilla, Universidad de Cantabria, IDIVAL, Santander, España.

Introduction: Liver transplantation is the only alternative treatment in patients in end-stage liver function. In many cases the need for liver transplantation is a consequence of the toxic effects of alcohol. The aim of our study was to determine if patients who are candidates for a liver transplant require a systematic exploration of the head and neck to rule out malignant lesions in this area.

Patients And Methods: All the candidates for a liver transplant, between 2011 and 2017, were included in our study. All of them underwent a systematic exploration of the head and neck by an otolaryngologist to rule out malignancy of the head and neck.

Results: A total of 141 patients were included in our study. In 2 of them (1.3%) a carcinoma of the head and neck was detected (one of the oropharynx and the other of the larynx). Both patients were asymptomatic from an ENT point of view. They were treated with chemoradiotherapy. One of them died during follow-up due to the appearance of a metachronous lung tumour. The other is free of disease 2 years after diagnosis but without having been transplanted. Both patients had a history of smoking and high alcohol intake.

Conclusions: In patients who are candidates for a liver transplant who have a history of smoking and / or high alcohol intake, a pretransplant head and neck study including pharyngo-laryngeal fibroscopy is indicated.
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http://dx.doi.org/10.1016/j.otorri.2020.02.003DOI Listing
May 2020

Candida albicans causing cervical pyomyositis: A case report.

Acta Otorrinolaringol Esp 2020 Nov - Dec;71(6):396-398. Epub 2020 Mar 3.

Otorrinolaringologist Department, Marqués de Valdecilla University Hospital, Cantabria's University, Santander, Cantabria, spain.

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http://dx.doi.org/10.1016/j.otorri.2019.09.005DOI Listing
March 2020

Response of head and neck epithelial cells to a DNA damage-differentiation checkpoint involving polyploidization.

Head Neck 2018 11 12;40(11):2487-2497. Epub 2018 Oct 12.

Cell Cycle, Stem Cell Fate and Cancer Laboratory, Institute for Research of Marqués de Valdecilla (IDIVAL), Santander, Spain.

Background: Squamous epithelia of the head and neck undergo continuous cell renewal and are continuously exposed to mutagenic hazard, the main cause of cancer. How they maintain homeostasis upon cell cycle deregulation is unclear.

Methods: To elucidate how head and neck epithelia respond to cell cycle stress, we studied human keratinocytes from various locations (oral mucosa, tonsil, pharynx, larynx, and trachea). We made use of genotoxic or mitotic drugs (doxorubicin [DOXO], paclitaxel, and nocodazole), or chemical inhibitors of the mitotic checkpoint kinases, Aurora B and polo-like-1. We further tested the response to inactivation of p53, ectopic cyclin E, or to the chemical carcinogen 7,12-dimethylbenz[a]anthracene (DMBA).

Results: All treatments provoked DNA damage or mitosis impairment and strikingly triggered squamous differentiation and polyploidization, resulting in irreversible loss of clonogenic capacity.

Conclusion: Keratinocytes from head and neck epithelia share a cell-autonomous squamous DNA damage-differentiation response that is common to the epidermis and might continuously protect them from cancer.
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http://dx.doi.org/10.1002/hed.25376DOI Listing
November 2018

Spontaneous septal abscess as the cause of septic shock.

Acta Otorrinolaringol Esp 2019 Jul - Aug;70(4):245-246. Epub 2018 Aug 1.

Servicio de Otorrinolaringología, Hospital Universitario Marqués de Valdecilla, Santander, Cantabria, España.

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http://dx.doi.org/10.1016/j.otorri.2018.05.001DOI Listing
January 2020

Otorhinolaryngology manifestations secondary to oral sex.

Acta Otorrinolaringol Esp 2017 May - Jun;68(3):169-180. Epub 2016 Oct 25.

Servicio de Otorrinolaringología, Facultad de Medicina, Universidad de Cantabria, HUMV Santander, IDIVAL, Cantabria, Santander, España. Electronic address:

Introduction: Over the last few years, oral and pharyngeal signs and symptoms due to oral sex have increased significantly. However, no review articles related to this subject have been found in the medical literature. The objective of our study was to identify otorhinolaryngological manifestations associated with orogenital/oroanal contact, both in adults and children, in the context of consensual sex or sexual abuse.

Methods: We performed a review of the medical literature on otorhinolaryngological pathology associated with oral sex published in the last 20 years in the PubMed database.

Results: Otorhinolaryngological manifestations secondary to oral sex practice in adults can be infectious, tumoral or secondary to trauma. The more common signs and symptoms found in the literature were human papillomavirus infection (above all, condyloma acuminata and papilloma/condyloma), oral or pharyngeal syphilis, gonococcal pharyngitis, herpes simplex virus infection and pharyngitis from Chlamydia trachomatis. The incidence of human papillomavirus -induced oropharyngeal carcinoma has dramatically increased. In children past the neonatal period, the presence of condyloma acuminatus, syphilis, gonorrhoea or palatal ecchymosis (the last one, unless justified by other causes) should make us suspect sexual abuse.

Conclusions: Sexual habits have changed in the last decades, resulting in the appearance of otorhinolaryngological pathology that was rarely seen previously. For this reason, it is important for primary care physicians to have knowledge about the subject to perform correct diagnosis and posterior treatment. Some sexual abuse cases in children may also be suspected based on the knowledge of the characteristic oropharyngeal manifestations secondary to them.
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http://dx.doi.org/10.1016/j.otorri.2016.04.003DOI Listing
June 2018

Audio-vestibular signs and symptoms in Chiari malformation type i. Case series and literature review.

Acta Otorrinolaringol Esp 2015 Jan-Feb;66(1):28-35. Epub 2014 Sep 4.

Servicio de ORL, Hospital Universitario Marqués de Valdecilla, Santander, España.

Introduction: Chiari malformation is an alteration of the base of the skull with herniation through the foramen magnum of the brain stem and cerebellum. Although the most common presentation is occipital headache, the association of audio-vestibular symptoms is not rare. The aim of our study was to describe audio-vestibular signs and symptoms in Chiari malformation type i (CM-I).

Materials And Methods: We performed a retrospective observational study of patients referred to our unit during the last 5 years. We also carried out a literature review of audio-vestibular signs and symptoms in this disease.

Results: There were 9 patients (2 males and 7 females), with an average age of 42.8 years. Five patients presented a Ménière-like syndrome; 2 cases, a recurrent vertigo with peripheral features; one patient showed a sudden hearing loss; and one case suffered a sensorineural hearing loss with early childhood onset. The most common audio-vestibular symptom indicated in the literature in patients with CM-I is unsteadiness (49%), followed by dizziness (18%), nystagmus (15%) and hearing loss (15%). Nystagmus is frequently horizontal (74%) or down-beating (18%). Other audio-vestibular signs and symptoms are tinnitus (11%), aural fullness (10%) and hyperacusis (1%). Occipital headache that increases with Valsalva manoeuvres and hand paresthesias are very suggestive symptoms.

Conclusions: The appearance of audio-vestibular manifestations in CM-I makes it common to refer these patients to neurotologists. Unsteadiness, vertiginous syndromes and sensorineural hearing loss are frequent. Nystagmus, especially horizontal and down-beating, is not rare. It is important for neurotologists to familiarise themselves with CM-I symptoms to be able to consider it in differential diagnosis.
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http://dx.doi.org/10.1016/j.otorri.2014.05.002DOI Listing
December 2016

Haemorrhagic lesions in oral mucosa as the presentation of idiopathic thrombocytopenic purpura.

Acta Otorrinolaringol Esp 2015 Jul-Aug;66(4):e20-1. Epub 2014 Mar 12.

Servicio de Otorrinolaringología, Hospital Universitario Marqués de Valdecilla, Santander, España.

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http://dx.doi.org/10.1016/j.otorri.2013.11.003DOI Listing
March 2017

[Neurofibromatosis type 2 and its head and neck manifestations: literature review and population study in the Community of Cantabria and the province of Las Palmas].

Acta Otorrinolaringol Esp 2014 May-Jun;65(3):148-56. Epub 2014 Feb 28.

Servicio de Otorrinolaringología, Hospital Universitario Marqués de Valdecilla (HUMV), Santander, España.

Introduction And Objectives: Neurofibromatosis type 2 (NF2) is an infrequent autosomal dominant disease characterised by the appearance of viii nerve schwannomas, meningiomas and ocular abnormalities. Incidence of 1:25,000 and prevalence above 1:80,000 are estimated in general. The objectives of our study were to determine current prevalence of NF2 in the Community of Cantabria and the province of Las Palmas, and its head and neck manifestations.

Material And Methods: This was a population-based, retrospective study in 3 tertiary hospitals.

Results: The study population showed prevalence of 1:600,000 in the Community of Cantabria and 1:280,000 in the province of Las Palmas. The most frequently diagnosed tumour was acoustic neuroma (n=15), followed by trigeminal neurinoma (n=2) and vagus (n=1).

Conclusions: Cases of NF2 are infrequent in Cantabria and Las Palmas, lower than that reported in the literature. The most frequently described head and neck tumour in the literature is acoustic neuroma, followed by schwannoma of cranial nerves v and x. Other tumours such as nasal, laryngeal, chorda tympani or cranial nerve vii schwannomas are also described. The most frequent ENT manifestation is hearing loss, especially unilateral, followed by cervical mass, tinnitus and headache. Early diagnosis and multidisciplinary management in specialised centres could improve life expectancy and quality of life for these patients.
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http://dx.doi.org/10.1016/j.otorri.2013.12.001DOI Listing
October 2015

[Otorhinolaryngological manifestations in patients with Behçet disease].

Acta Otorrinolaringol Esp 2014 Jan-Feb;65(1):15-21. Epub 2013 Oct 2.

Servicio de Reumatología, Hospital Universitario Marqués de Valdecilla, Santander, España.

Introduction And Objectives: Behçet disease (BD) is a systemic immune-mediated vasculitis of unknown origin characterised by recurrent orogenital ulceration, ocular inflammation and skin lesions. The aim of our study was to identify ear, nose and throat (ENT) manifestations associated with BD.

Patients And Methods: Retrospective review of the medical records of all patients diagnosed with BD who attended a tertiary public hospital in Cantabria (Spain) over a period of 22 years. Clinical manifestations, in particular those concerning ENT, were retrieved from medical records. A medical literature review of ENT manifestations was conducted.

Results: Thirty-three patients (age range: 17-64 years) were included in the study. Most of them presented oral ulcers (97%). Eight patients (24%) presented oropharyngeal ulcers and 5 patients (15%) experienced audiovestibular symptoms (high frequency sensorineural hearing loss, vertigo and bilateral vestibular hypofunction). One patient had symptoms compatible with vestibular neuronitis as the presentation manifestation of Neuro-Behçet. In 4 patients (12%) the presence of odynophagia secondary to the presence of oropharyngeal lesions, initially interpreted as acute or recurrent tonsillitis, was the first manifestation of the disease, alone or associated with cutaneous or ocular lesions.

Conclusions: In addition to the characteristic oral ulcers present in most patients with BD, ulcers in the oropharynx, occasionally interpreted as acute pharyngitis, are also common in these patients. Audiovestibular manifestations frequently appear during the course of the disease and may be the first symptom of central nervous system involvement.
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http://dx.doi.org/10.1016/j.otorri.2013.06.007DOI Listing
April 2015

Black cervical lymphadenopathies.

Acta Otorrinolaringol Esp 2015 May-Jun;66(3):e15-6. Epub 2013 Oct 2.

Servicio de Cirugía General, Hospital Universitario Marqués de Valdecilla, Santander, España.

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http://dx.doi.org/10.1016/j.otorri.2013.07.004DOI Listing
December 2016

Horner's syndrome after neck surgery.

Acta Otorrinolaringol Esp 2012 Jul-Aug;63(4):299-302. Epub 2012 Apr 11.

Servicio de ORL, Hospital Universitario Marqués de Valdecilla, Santander, Cantabria, Spain.

Horner's syndrome (oculosympathetic paresis) is characterised by the classic triad of ipsilateral palpebral ptosis, pupillary miosis and facial anhidrosis. The syndrome arises from the interruption of sympathetic innervation to the eye and adnexa at varying levels. It is a rare complication of neck surgery.We describe 6 patients who presented with Horner's syndrome after a neck procedure in our department during the last 5 years and review the different neck procedures that can cause it.
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http://dx.doi.org/10.1016/j.otorri.2012.01.015DOI Listing
November 2012

[Ear, nose and throat manifestations of Wegener's granulomatosis (granulomatosis with polyangiitis)].

Acta Otorrinolaringol Esp 2012 May-Jun;63(3):206-11. Epub 2012 Mar 20.

Otorrinolaringología, Hospital Universitario Marqués de Valdecilla, Santander, Cantabria, España.

Introduction And Objectives: Granulomatosis with polyangiitis (GPA), previously called Wegener's granulomatosis, is a small vessel vasculitis often associated with clinical head and neck manifestations, which are sometimes the presenting symptoms of the disease. The aim of our study was to identify ear, nose and throat (ENT) manifestations associated with GPA and propose a work-up for the management and diagnosis for patients with suspicion or confirmed diagnosis of this ENT pathology.

Patients And Methods: Retrospective review of the medical records of all patients diagnosed with GPA who were seen at the Department of Otolaryngology from a tertiary public hospital in Cantabria (Spain) over a 20-year period. Clinical and laboratory data, in particular those concerning ENT manifestations, were retrieved from the patients' medical records.

Results: Twenty-five patients (age range: 30-81 years) were included in the study. Of these, 88% had ENT manifestations at some point in the course of the disease. In 28% of the cases, ENT features were the presenting manifestations. The most frequent ENT manifestations were sinonasal symptoms (52%), followed by otological manifestations (32%).

Conclusions: Patients with GPA often present with clinical ENT manifestations. Consequently, routine ENT physical examination must be performed in patients with suspected vasculitis to establish a diagnosis of GPA or to better determine the degree of organ system involvement in patients with GPA.
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http://dx.doi.org/10.1016/j.otorri.2011.12.002DOI Listing
September 2012

Neck injuries.

Acta Otorrinolaringol Esp 2012 Jan-Feb;63(1):47-54. Epub 2011 Oct 19.

Servicio de Otorrinolaringología, Hospital Universitario Marqués de Valdecilla, Santander, Cantabria, España.

Introduction And Objective: Neck injuries are of great clinical interest because they can induce very significant consequences if not handled properly and can even lead to death. The aim of our study was to analyse external deep cervical trauma in our hospital.

Material And Methods: A retrospective study of all external deep neck injuries seen in a tertiary hospital over the course of 24 years that involved changes in structures related to otolaryngology.

Results: Twenty patients were included in our study. From all the injuries, 45% were secondary to traffic accidents, 27% from assault with a knife and 23% from attempted suicide. The injuries were open in 15 (68%) cases and closed in 7 (32%). The most common symptom was bleeding (55%), followed by respiratory disorders (23%). On examination, the most frequent sign was the appearance of subcutaneous emphysema (27%). Only 50% of patients underwent imaging before treatment, most often a neck CT (27%). 59% of patients needed surgery, with 6 patients (27%) requiring a tracheotomy. Two of them died (9%) and 6 suffered permanent complications.

Conclusions: Cervical injuries involving ENT structures are rare in our environment, with the most common cause being traffic accidents. It is important to have standardised guidelines for the management of these patients, because they can often developed severe complications or even die if not treated properly very rapidly.
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http://dx.doi.org/10.1016/j.otorri.2011.07.003DOI Listing
May 2012

DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss.

Hum Mutat 2011 Jul 7;32(7):825-34. Epub 2011 Jun 7.

Department of Otolaryngology-Head and Neck Surgery, University of Iowa, Iowa City, IA 52242, USA.

The prevalence of DFNA8/DFNA12 (DFNA8/12), a type of autosomal dominant nonsyndromic hearing loss (ADNSHL), is unknown as comprehensive population-based genetic screening has not been conducted. We therefore completed unbiased screening for TECTA mutations in a Spanish cohort of 372 probands from ADNSHL families. Three additional families (Spanish, Belgian, and English) known to be linked to DFNA8/12 were also included in the screening. In an additional cohort of 835 American ADNSHL families, we preselected 73 probands for TECTA screening based on audiometric data. In aggregate, we identified 23 TECTA mutations in this process. Remarkably, 20 of these mutations are novel, more than doubling the number of reported TECTA ADNSHL mutations from 13 to 33. Mutations lie in all domains of the α-tectorin protein, including those for the first time identified in the entactin domain, as well as the vWFD1, vWFD2, and vWFD3 repeats, and the D1-D2 and TIL2 connectors. Although the majority are private mutations, four of them-p.Cys1036Tyr, p.Cys1837Gly, p.Thr1866Met, and p.Arg1890Cys-were observed in more than one unrelated family. For two of these mutations founder effects were also confirmed. Our data validate previously observed genotype-phenotype correlations in DFNA8/12 and introduce new correlations. Specifically, mutations in the N-terminal region of α-tectorin (entactin domain, vWFD1, and vWFD2) lead to mid-frequency NSHL, a phenotype previously associated only with mutations in the ZP domain. Collectively, our results indicate that DFNA8/12 hearing loss is a frequent type of ADNSHL.
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http://dx.doi.org/10.1002/humu.21512DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3326665PMC
July 2011

[Prevalence of the A1555G MTDNA mutation in sporadic hearing-impaired patients without known history of aminoglycoside treatment].

Acta Otorrinolaringol Esp 2011 Mar-Apr;62(2):83-6. Epub 2010 Dec 3.

Servicio de ORL, Hospital Universitario Marqués de Valdecilla, Profesor Asociado Universidad de Cantabria, Santander, Spain.

Introduction: The A1555G mitochondrial DNA (mtDNA) mutation is responsible for maternally inherited non-syndromic hearing loss that is increased by aminoglycoside exposure. The objective of this study was to ascertain the frequency of the A1555G mutation among patients without family history of hearing loss or known exposition to aminoglycosides.

Methods: We screened for the mtDNA A1555G mutation in Spanish patients with sporadic sensorineural hearing impairment without a known family history of hearing loss or aminoglycoside exposition seen at the ENT Department in Sierrallana Hospital (Torrelavega, Cantabria, Spain) over a four-year period.

Results: A total of 219 patients with bilateral hearing loss were screened. Two of them (0.9%) had the A1555G mitochondrial DNA mutation. Both patients had a moderate bilateral sensorineural hearing loss for low frequency, and moderate to severe loss for high-frequency.

Conclusions: The mtDNA A1555G mutation in patients with sensorineural hearing loss without family history of deafness or aminoglycoside ototoxicity is infrequent in our region. We should suspect this mutation in patients younger than 50 years old, with postlingual bilateral sensorineural hearing loss that is more pronounced at high frequency.
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http://dx.doi.org/10.1016/j.otorri.2010.08.003DOI Listing
July 2011

[Button battery in oesophagus].

Acta Otorrinolaringol Esp 2008 Nov;59(9):474

Servicio de Otorrinolaringología, Hospital Universitario Marqués de Valdecilla, Universidad de Cantabria, Cantabria, España.

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November 2008

[Treatment of epistaxes in hereditary haemorrhagic telangiectasia (Rendu-Osler-Weber disease) with tranexamic acid].

Acta Otorrinolaringol Esp 2007 Apr;58(4):129-32

Unidad de THH, Hospital Sierrallana, Torrelavega, Cantabria, España.

Objective: Recurrent epistaxis is the most frequent clinical manifestation of hereditary haemorrhagic telangiectasia (HHT). Its treatment occasionally presents difficulties as there is no consensus on the appropriate therapeutic protocol. Our objective was to explore the utility of oral tranexamic acid for the treatment of epistaxes in HHT patients.

Patients And Method: A 3-year prospective study was carried on HHT patients with epistaxis treated with oral tranexamic acid in the HHT unit at our hospital.

Results: Ten patients with HHT were treated with oral tranexamic acid during the study. Most of them improved both the frequency and severity of their epistaxis and were satisfied with the treatment. No treatment-related complications were recorded. Two patients needed more aggressive treatments to control epistaxis.

Conclusions: Oral tranexamic acid is useful for achieving significant reductions in epistaxis frequency and intensity in selected patients with HHT. In those presenting severe epistaxis, however, it may need to be combined with more aggressive therapies.
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April 2007

Therapeutic action of tranexamic acid in hereditary haemorrhagic telangiectasia (HHT): regulation of ALK-1/endoglin pathway in endothelial cells.

Thromb Haemost 2007 Feb;97(2):254-62

Centro de nvestigaciones Biologicas, CSIC, Ramiro de Maetzu, Madrid, Spain.

Recurrent epistaxis is the most frequent clinical manifestation of hereditary haemorrhagic telangiectasia (HHT). Its treatment is difficult. Our objective was to assess the use of tranexamic acid (TA), an antifibrinolytic drug, for the treatment of epistaxis in HHT patients and to investigate in vitro the effects of TA over endoglin and ALK-1 expression and activity in endothelial cells. A prospective study was carried out on patients with epistaxis treated with oral TA in the HHT Unit of Sierrallana Hospital (Cantabria, Spain). Primary cultures of endothelial cells were treated with TA to measure the levels of endoglin and ALK-1 at the cell surface by flow cytometry. RNA levels were also measured by real-time PCR, and the transcriptional effects of TA on reporters for endoglin, ALK-1 and the endoglin/ALK-1 TGF-beta pathway were assessed. The results showed that the fourteen HHT patients treated orally with TA improved, and the frequency and severity of their epistaxis were decreased. No complications derived from the treatment were observed. Cultured endothelial cells incubated with TA exhibited increased levels of endoglin and ALK-1 at the protein and mRNA levels, enhanced TGF-beta signaling, and improved endothelial cell functions like tubulogenesis and migration. In summary, oral administration of TA proved beneficial for epistaxis treatment in selected patients with HHT. In addition to its already reported antifibrinolytic effects, TA stimulates the expression ofALK-1 and endoglin, as well as the activity of the ALK-1/endoglin pathway.
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February 2007

Auditory neuropathy in patients carrying mutations in the otoferlin gene (OTOF).

Hum Mutat 2003 Dec;22(6):451-6

Unidad de Genética Molecular, Hospital Ramón y Cajal, Madrid, Spain.

Inherited hearing impairment affects one in 2,000 newborns. Nonsyndromic prelingual forms are inherited mainly as autosomal recessive traits, for which 16 genes are currently known. Mutations in the genes encoding connexins 26 and 30 account for up to 50% of these cases. However, the individual contribution of the remaining genes to the whole remains undetermined. In addition, for most of the genes there is a need for studies on genotype-phenotype correlations, to identify distinctive clinical features which may direct the molecular diagnosis to specific genes. Here we present a mutation analysis and a genotype-phenotype correlation study on the gene encoding otoferlin (OTOF), responsible for the DFNB9 subtype of prelingual hearing impairment. Four novel mutations were identified: c.2122C>T (p.Arg708Ter), c.4275G>A (p.Trp1425Ter), c.4362+2T>G, and c.5860_5862delATC (p.Ile1954del). A total of 37 subjects with mutations in OTOF were studied clinically. They were phenotypically homogeneous, having profound hearing impairment with very early onset, as shown by pure-tone audiometry and auditory brainstem responses. Magnetic resonance imaging and computed tomography did not reveal any inner ear malformation. Unexpectedly, transient evoked otoacoustic emissions (TEOAEs) were present, either bilaterally or unilaterally in 11 subjects. Altogether, clinical data of these subjects met the diagnostic criteria of auditory neuropathy. A total of 10 subjects had been successfully provided with cochlear implants. The results of our study indicate that genetic diagnosis of subjects with auditory neuropathy and profound hearing impairment should be directed to the otoferlin gene. Our data are of concern to universal screening programs which use TEOAEs as the first detection test for hearing impairment in newborns, since this technique may overlook a nonnegligible proportion of cases.
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http://dx.doi.org/10.1002/humu.10274DOI Listing
December 2003

[Familial susceptibility to aminoglycoside ototoxicity due to the A1555G mutation in the mitochondrial DNA].

Med Clin (Barc) 2003 Jul;121(6):216-8

Servicio de Otorrinolaringología. Hospital Marqués de Valdecilla. Santander. Cantabria. Spain.

Background And Objective: The A1555G mutation in the mitochondrial genome causes sensorineural hearing loss and familial aminoglycoside ototoxicity.

Patients And Method: Screening for the A1555G mutation was performed on 72 patients with nonsyndromic sensorineural hearing loss.

Results: The A1555G mutation was identified in 15 patients (20.8%). All of them presented maternal relatives with deafness. Individuals with the A1555G mutation that had been treated with aminoglycosides developed more severe hearing loss.

Conclusions: The A1555G mutation should be screened in individuals with maternal relatives with hearing loss before administering aminoglycosides.
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http://dx.doi.org/10.1016/s0025-7753(03)73909-8DOI Listing
July 2003