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1.
Acta Otorhinolaryngol Ital ; 43(Suppl. 1): S28-S33, 2023 Apr.
Article in English | MEDLINE | ID: mdl-37698097

ABSTRACT

Objective: To report our experience in the use of silicone septal splint for recurrent severe epistaxis in hereditary haemorrhagic telangiectasia patients (HHT). Methods: This is a descriptive analysis carried out at the Otorhinolaryngology Department of Fondazione IRCCS Policlinico San Matteo in Pavia, a reference centre for the treatment and diagnosis of HHT. We retrospectively evaluated HHT patients who underwent silicone septal splint positioning after the endoscopic surgical treatment of epistaxis from 2000 to 2022. Results: Of the 506 patients surgically treated in the period of analysis, 74 patients underwent silicone septal splint positioning and 37 were post-operatively interviewed. With a mean of 2.4 previous surgical treatments and a mean epistaxis severity of 7.38, the majority of patients presented with septal perforation (71.6%). On average, patients maintained the splint in place for 54.5 months, with a good tolerability and a significant reduction in epistaxis severity, need for blood transfusion and improvement of haemoglobin levels. Conclusions: In HHT patients with recurrent severe epistaxis and with septal perforation, the placement of septal splints offers a useful additional strategy in the management of nosebleeds.


Subject(s)
Epistaxis , Telangiectasia, Hereditary Hemorrhagic , Humans , Epistaxis/etiology , Epistaxis/therapy , Retrospective Studies , Splints , Referral and Consultation , Silicones
2.
Intern Emerg Med ; 18(4): 1109-1118, 2023 06.
Article in English | MEDLINE | ID: mdl-37140873

ABSTRACT

Rare Disease patients manifested high concern regarding the possible increased risk of severe outcomes and worsening of disease-specific clinical manifestation due to the impact of COVID-19. Our aim was to assess the prevalence, outcomes, and impact of COVID-19 in patients with a rare disease such as Hereditary Hemorrhagic Telangiectasia (HHT) in Italian population. A nationwide, multicentric, cross-sectional observational study was conducted on patients with HHT from five Italian HHT centers by online survey. The association between COVID-19-related signs and symptoms and nosebleeds worsening, the impact of personal protective equipment on nosebleeds pattern, and the relationship between the presence of visceral AVMs and severe outcomes were analyzed. Out of 605 total survey responses and eligible for analysis, 107 cases of COVID-19 were reported. A mild-course COVID-19 disease, not requiring hospitalization, was observed in 90.7% of patients, while the remaining eight cases needed hospitalization, two of them requiring intensive-care access. No fatal outcome was recorded and 79.3% of patients reported a complete recovery. No difference in infection risk and outcome between HHT patients and general population was evidenced. No significative interference of COVID-19 on HHT-related bleeding was found. The majority of patients received COVID-19 vaccination, with relevant impact on symptoms and need for hospitalization in case of infection. COVID-19 in HHT patients had an infection profile similar to the general population. COVID-19 course and outcome were independent from any specific HHT-related clinical features. Moreover, COVID-19 and anti-SARS-CoV-2 measures did not seem to affect significantly HHT-related bleeding profile.


Subject(s)
COVID-19 , Telangiectasia, Hereditary Hemorrhagic , Humans , Telangiectasia, Hereditary Hemorrhagic/complications , Telangiectasia, Hereditary Hemorrhagic/epidemiology , Telangiectasia, Hereditary Hemorrhagic/diagnosis , Epistaxis/epidemiology , Epistaxis/etiology , Epistaxis/diagnosis , Rare Diseases , Cross-Sectional Studies , COVID-19 Vaccines , COVID-19/complications , COVID-19/epidemiology , SARS-CoV-2
3.
Mol Genet Genomic Med ; 10(8): e1972, 2022 08.
Article in English | MEDLINE | ID: mdl-35620871

ABSTRACT

BACKGROUND: Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular disorder, affecting 1:5000 individuals worldwide. All the genes associated to the disease (ENG, ACVRL1, SMAD4, GDF2) belong to the TGF-ß/BMPs signaling pathway. We found 19 HHT unrelated families, coming from a Northern Italy region and sharing the ACVRL1 in-frame deletion c.289_294del (p.H97_N98). METHODS: To test the hypothesis of a founder effect, we analyzed 88 subjects from 19 families (66 variant carriers, showing clinical signs of HHT, and 22 non-carriers, unaffected) using eight microsatellite markers within 3.7 Mb around the ACVRL1 locus. After the haplotype reconstruction, age estimation of the variant was carried out. RESULTS: We observed a common disease haplotype in 16/19 families, while three families showed evidence of recombination around the ACVRL1 locus. The subsequent age estimation analyses suggested that the mutation occurred about 8 generations ago, corresponding to about 200 years ago. We also present novel in silico and modeling data supporting the variant pathogenicity: the deletion alters the protein stability and removes the unique extracellular glycosylation site. CONCLUSION: We have demonstrated, for the first time, a "founder effect" for a HHT pathogenic variant in Italy.


Subject(s)
Activin Receptors, Type II , Telangiectasia, Hereditary Hemorrhagic , Activin Receptors, Type II/genetics , Endoglin/genetics , Founder Effect , Heterozygote , Humans , Italy , Mutation , Telangiectasia, Hereditary Hemorrhagic/diagnosis
4.
Orphanet J Rare Dis ; 16(1): 378, 2021 09 08.
Article in English | MEDLINE | ID: mdl-34496900

ABSTRACT

BACKGROUND: Coronavirus Disease 2019 (COVID-19) continues to have a devastating impact across the world. A number of pre-existing common clinical conditions were reported to represent risk factors for more severe COVID-19 outcomes. Hereditary Hemorrhagic Telangiectasia (HHT) is a rare vascular heritable disorders, characterized by complications secondary to visceral Arterio-Venous Malformations. The impact of HHT, as well as for many Rare Diseases (RDs) on infection susceptibility profile and clinical adverse outcome risk is an unresolved issue. OBJECTIVES: The main objectives were: to assess the clinical features and outcomes of HHT patients infected with COVID-19; to compare the relative infection risk in these patients with the Italian general population throughout the first pandemic wave; to investigate the factors potentially associated with severe COVID-19 outcome in HHT patients, and the possible impact of COVID-19 infection on HHT-related symptoms/complications. Finally, we aimed to estimate how the lockdown-associated wearing of personal protective equipment/individual protection devices could affect HHT-related telangiectasia bleeding frequency. METHODS: The study is a nation-wide questionnaire-based survey, with a multi-Center retrospective cross-sectional design, addressed to the whole Italian HHT population. COVID-19 cases, occurring throughout the first pandemic wave, were collected by a questionnaire-based semi-structured interview. Only the cases ascertained by laboratory confirmation (molecular/serological) were included for epidemiological estimates. Information concerning eventual SarS-Cov-2 infection, as well as regarding HHT-related manifestations and HHT-unrelated co-morbidities were collected by the questionnaire. Prevalence data were compared to Italian general population in the same period. RESULTS: The survey disclosed 9/296 (3.04%) COVID-19 cases, 8/9 of them being resident in Lombardy, the main epidemic epicenter. Pneumonia was reported by 4/9 patients, which prompted hospital admission and intensive care management in 2 cases. No fatal outcome was recorded. After careful refinement of epidemiological analysis, the survey evidenced overlapping infection risk in HHT compared to general population. CONCLUSIONS: COVID-19 infection profile parallels geographical distribution of epidemic foci. COVID-19 in HHT patients can lead to highly variable clinical profile, likely overlapping with that of general population. The HHT disease does not seem to involve a different approach in terms of hospital admission and access to intensive care with respect to general population.


Subject(s)
COVID-19 , Telangiectasia, Hereditary Hemorrhagic , Communicable Disease Control , Cross-Sectional Studies , Humans , Italy/epidemiology , Retrospective Studies , SARS-CoV-2 , Telangiectasia, Hereditary Hemorrhagic/epidemiology
5.
J Pediatr ; 238: 74-79.e2, 2021 Nov.
Article in English | MEDLINE | ID: mdl-34265342

ABSTRACT

OBJECTIVES: To evaluate the role of nasal endoscopy for early clinical diagnosis of hereditary hemorrhagic telangiectasia (HHT) in children and to investigate the characteristics of epistaxis and mucocutaneous telangiectases in our pediatric population. STUDY DESIGN: From May 2016 to December 2019, a cross-sectional observational study was conducted, recruiting children aged 2-18 years with a parent affected by HHT. To identify the Curaçao criteria, all children underwent collection of clinical history, mucocutaneous examination, and nasal endoscopy. The clinical data were then compared with the genetic data acquired subsequently. RESULTS: Seventy children (median age, 10.8 years) were included. All underwent nasal endoscopy without complications. Forty-six children were positive by genetic testing; of these, 26 % had skin and oral telangiectases and 91 % had nasal telangiectases. The diagnostic sensitivity of the Curaçao criteria increased from 28 % (95 % CI, 16%-43 %) to 85 % (95 % CI, 71%-94 %; P < .0001) when the nasal telangiectases were included. CONCLUSIONS: The magnified and complete endoscopic view of the nasal cavities proved useful in increasing the diagnostic sensitivity of the Curaçao criteria. Such an examination turned out to be feasible and safe. For this reason, we believe that nasal endoscopy should be included in the diagnostic assessment of pediatric patients with suspected HHT.


Subject(s)
Endoscopy/methods , Epistaxis/etiology , Telangiectasia, Hereditary Hemorrhagic/diagnosis , Adolescent , Child , Child, Preschool , Cross-Sectional Studies , Female , Humans , Infant , Male , Telangiectasia, Hereditary Hemorrhagic/complications , Telangiectasia, Hereditary Hemorrhagic/genetics , Visual Analog Scale
7.
Acta Otorhinolaryngol Ital ; 41(1): 59-68, 2021 Feb.
Article in English | MEDLINE | ID: mdl-33746224

ABSTRACT

OBJECTIVES: Hereditary haemorrhagic telangiectasia (HHT) is a rare autosomal dominant disease characterised by epistaxis. Surgical procedures for epistaxis vary from diathermocoagulation to nasal closure. The aim of this paper is to report our experience in endoscopic surgical management of epistaxis in HHT patients. METHODS: This is a descriptive, longitudinal study carried out at the Otorhinolaryngology Department of IRCCS Policlinico San Matteo in Pavia, a reference centre for the treatment and diagnosis of HHT. We retrospectively evaluated HHT patients who underwent surgery for epistaxis from 1996 to 2015, including only those treated with endoscopic surgery. RESULTS: Among the 591 patients hospitalised and screened for HHT, 323 (54.7%) underwent endoscopic surgery for epistaxis, for a total of 679 procedures. General anaesthesia was used in 77.2% of procedures; argon plasma coagulation was the instrument of choice in the majority of patients, followed by lasers and quantum molecular resonance technology. CONCLUSIONS: We report one of the largest cohorts undergoing endoscopic treatment of epistaxis in HHT patients. This mini-invasive surgical treatment allowed us to control epistaxis without major complications and nasal packaging and can be repeated over time. For these reasons, we recommend it as first choice in case of epistaxis in HHT patients.


Subject(s)
Endoscopy , Epistaxis , Telangiectasia, Hereditary Hemorrhagic , Epistaxis/complications , Epistaxis/surgery , Humans , Longitudinal Studies , Retrospective Studies , Telangiectasia, Hereditary Hemorrhagic/complications
8.
Am J Otolaryngol ; 42(2): 102828, 2021.
Article in English | MEDLINE | ID: mdl-33234296

ABSTRACT

On March 11, 2020, WHO has defined the novel coronavirus disease SARS-CoV-2 (COVID-19) outbreak as a pandemic and still today continues to affect much of the world. Among the reasons for the rapid spread of SARS-CoV-2 infection, there is not only the high transmissibility of the virus, but also the role of asymptomatic or minimally symptomatic carriers. Therefore diagnostic testing is central to contain the global pandemic. Up to now real-time reverse transcriptase polymerase chain reaction (RT-PCR)-based molecular assays for detecting SARSCoV-2 in respiratory specimens is the current reference standard for COVID-19 diagnosis. Nasopharyngeal swab is the preferred choice for SARS-CoV-2 testing; however is not always a free of complications procedure. In patients with severe coagulopathies or diseases such as HHT, the risk of nosebleeding may be high. As in all those conditions like advanced stage sinonasal neoplasms or unfavorable anatomical characteristics, the nasopharyngeal swab may not be feasible. This work reports a safe and effective procedure of nasopharyngeal swab collection for COVID-19 testing, through the transoral way, in patients with contraindication to perform it transnasally. The procedure proved feasible and well tolerated. The discomfort for the patient is comparable with the execution of an oropharyngeal swab without exposing him to additional complications. In selected cases, the procedure described represents a valid alternative to nasopharyngeal swab performed transnasally. In particular, it allows reaching the area with the highest diagnostic sensitivity. Moreover it can be performed by Otolaryngology and, with adequate training, also by non-specialist staff.


Subject(s)
COVID-19 Testing , Nasopharynx/virology , Specimen Handling/methods , COVID-19/diagnosis , Humans , SARS-CoV-2/isolation & purification , Specimen Handling/instrumentation
9.
Int J Pediatr Otorhinolaryngol ; 140: 110493, 2021 Jan.
Article in English | MEDLINE | ID: mdl-33199030

ABSTRACT

OBJECTIVES: Adenoid hypertrophy is a common cause of upper airway obstruction in children. However, after adenoidectomy, nasal obstructive symptoms may persist or recur, requiring surgical revision. The aim of this study is to evaluate if individual patient features can influence the efficacy of the traditional technique. METHODS: A retrospective observational study was conducted by recruiting patients from candidates for adenoidectomy. All children underwent conventional transoral curettage adenoidectomy with endoscopic control at the end of procedure, and in presence of adenoid residues, a concomitant revision adenoidectomy was performed. For each patient, the following data were collected: age, sex, weight, height, length of the soft palate and surgical technique used. RESULTS: In 18% of patients (113/612), the most critical areas of the nasopharynx were not reached by standard surgery, making a complete adenoidectomy difficult. In this group, the average length of the soft palate was 3.1 cm, 5 mm more than the average of the sample, and 6 mm more than the average length of patients undergoing standard surgery alone (p < 0.001). CONCLUSION: Our study confirms the hypothesis that a greater length of the soft palate conditions the results of the intervention. The length of the soft palate can be considered an intraoperative criterion to select the cases in which perform endoscopic control after the standard procedure.


Subject(s)
Adenoids , Adenoidectomy , Adenoids/surgery , Child , Curettage , Humans , Hypertrophy/surgery , Nasopharynx
10.
Orphanet J Rare Dis ; 15(1): 350, 2020 12 18.
Article in English | MEDLINE | ID: mdl-33339521

ABSTRACT

On March 11, 2020, WHO has defined the novel coronavirus disease SARS-CoV-2 (COVID-19) outbreak as a pandemic that still today continues to affect much of the world. Among the reasons for the rapid spread of SARS-CoV-2 infection, there is the role of asymptomatic or minimally symptomatic carriers. Therefore diagnostic testing is central to contain the global pandemic. Up to now real-time reverse transcriptase polymerase chain reaction-based molecular assays for detecting SARS-CoV-2 in respiratory specimens is the current reference standard for COVID-19 diagnosis. Based on current knowledge regarding the sensitivity of the molecular test, the highest positive detection rate is from lower respiratory tract specimens; alternatively it is possible to perform a nasopharyngeal or oropharyngeal swab. Nasopharyngeal swab is the preferred choice for SARS-CoV-2 testing since it seems to have a greater sensitivity; however the procedure is not always free of complications and an epistaxis can occur. Among patients with greatest risk of massive nosebleed there are HHT patients. Hereditary hemorrhagic telangiectasia is an autosomal dominant disease that leads to multiregional mucocutanous telangiectases and visceral arteriovenous malformations. Clinically, the presence of telangiectases in nasal mucosa is the cause of recurrent epistaxis. In HHT patients the execution of the nasopharyngeal swab can determine from little or no consequences to a massive epistaxis leading to the necessity of nasal packing generally followed by hospital admission. In HHT patients undergoing a diagnostic test to evaluate the SARS-CoV-2 infection status, especially in those patients with frequent epistaxis with a history of anemia and repeated hospitalizations, it is therefore advisable to perform an oropharyngeal swab. This, compared to the nasopharyngeal swab, exposes to a lower risk of severe nosebleeds related treatments, such as blood transfusions or invasive procedures. According to the risk-benefit assessment and based on our experience, we consider that, despite a lower diagnostic sensitivity, oropharyngeal swab is preferable to nasopharyngeal swab for the diagnosis of SARS CoV-2 infection in patients with HHT.


Subject(s)
COVID-19 Testing/methods , COVID-19/diagnosis , Nasopharynx/virology , Oropharynx/virology , SARS-CoV-2 , Telangiectasia, Hereditary Hemorrhagic/complications , COVID-19/complications , Epistaxis/etiology , Epistaxis/prevention & control , Humans
13.
Eur Arch Otorhinolaryngol ; 274(7): 2785-2791, 2017 Jul.
Article in English | MEDLINE | ID: mdl-28374054

ABSTRACT

The maxillary sinus is the most common site of sinonasal inverted papilloma. Endoscopic sinus surgery, in particular endoscopic medial maxillectomy, is currently the gold standard for treatment of maxillary sinus papilloma. Although a common technique, complications such as stenosis of the lacrimal pathway and consequent development of epiphora are still possible. To avoid these problems, we propose a modification of this surgical technique that preserves the head of the inferior turbinate and the nasolacrimal duct. A retrospective analysis was performed on patients treated for maxillary inverted papilloma in three tertiary medical centres between 2006 and 2014. Pedicle-oriented endoscopic surgery principles were applied and, in select cases where the tumour pedicle was located on the anterior wall, a modified endoscopic medial maxillectomy was carried out as described in this paper. From 2006 to 2014 a total of 84 patients were treated. A standard endoscopic medial maxillectomy was performed in 55 patients (65.4%), while the remaining 29 (34.6%) had a modified technique performed. Three recurrences (3/84; 3.6%) were observed after a minimum follow-up of 24 months. A new surgical approach for select cases of maxillary sinus inverted papilloma is proposed in this paper. In this technique, the endoscopic medial maxillectomy was performed while preserving the head of the inferior turbinate and the nasolacrimal duct ("TuNa-saving"). This technique allowed for good visualization of the maxillary sinus, good oncological control and a reduction in the rate of complications.


Subject(s)
Endoscopy/methods , Maxillary Sinus Neoplasms/surgery , Maxillary Sinus/surgery , Papilloma, Inverted/surgery , Adult , Aged , Aged, 80 and over , Female , Follow-Up Studies , Humans , Male , Middle Aged , Nasolacrimal Duct/surgery , Retrospective Studies , Treatment Outcome , Turbinates/surgery
14.
Eur J Ophthalmol ; 27(3): 379-381, 2017 May 11.
Article in English | MEDLINE | ID: mdl-28009407

ABSTRACT

PURPOSE: Few studies have focused on the intranasal localization of the lacrimal sac during endoscopic dacryocystorhinostomy: landmarks in order to find the medial wall of the lacrimal sac have been described, but there is a lack of description of methods for the verification of the complete marsupialization of the lacrimal sac during surgery. In this report, we propose an easy and effective method for certain intraoperative identification of lacrimal sac. METHODS: A method in order to verify the effective marsupialization of the lacrimal sac is applied and described: to ensure that the opening of the sac in the nasal cavity is complete, the surgeon should identify the Rosenmuller valve, which is the end of the common canaliculus in the lacrimal sac. Continuous irrigation with saline solution through the inferior canaliculus can be useful to obtain a clean surgical area and to permit easy intraoperative identification of the valve. RESULTS: Between 2007 and 2015, 193 endoscopic dacryocystorhinostomies were performed in our institutions. Postoperative surgical success at last follow-up (minimum 12 months) was 93.8% (181 out of 193 of cases). No major complications were observed. CONCLUSIONS: Correct and complete exposure of the lacrimal sac during surgery is crucial for a good outcome: when the opening of the common canaliculus is identified, the surgeon is assured that the sac has been correctly and completely marsupialized inside the nasal cavity.


Subject(s)
Dacryocystorhinostomy/methods , Endoscopy/methods , Lacrimal Apparatus/diagnostic imaging , Humans , Intraoperative Period , Lacrimal Apparatus/surgery , Retrospective Studies
15.
Int Forum Allergy Rhinol ; 7(3): 300-303, 2017 03.
Article in English | MEDLINE | ID: mdl-27860447

ABSTRACT

BACKGROUND: Hereditary hemorrhagic telangiectasia (HHT) is a rare genetic disease that results in mucocutaneous telangiectasias and arteriovenous visceral malformations. Nasal telangiectasias lead to recurrent epistaxis, which affects up to 96% of patients. Different morphologic classifications and methods of visualization of nasal lesions have been described in the literature. We developed a new method of intraoperative endoscopy based on the intravenous administration of fluorescein. Preliminary data of this technique are reported. METHODS: After the intravenous administration of sodium fluorescein, an intraoperative fluorescein-guided endoscopy was carried out using photographic customized yellow filters on top of a 0-degree, 4-mm endoscope. RESULTS: In 2015, 65 HHT patients underwent surgery for their epistaxis in our institution, and in 7 patients (3 males, 4 females; mean age, 54 years) an intraoperative fluorescein-guided intraoperative nasal endoscopy was performed. No adverse events or complications were observed. CONCLUSION: First impressions regarding the usage of this technique in HHT patients seem to be promising and positive in terms of efficacy and safety. However, further studies with larger cohorts of patients should be performed in order to better investigate the use of this method for diagnostic and surgical purposes in HHT.


Subject(s)
Endoscopy/methods , Fluorescein/therapeutic use , Fluorescent Dyes/therapeutic use , Telangiectasia, Hereditary Hemorrhagic/surgery , Female , Humans , Male , Middle Aged
16.
Eur Arch Otorhinolaryngol ; 273(8): 2257-60, 2016 Aug.
Article in English | MEDLINE | ID: mdl-27216302

ABSTRACT

Hemostasis is a critical point in endoscopic sinus and skull base surgery. A variety of techniques are presently available for reducing intraoperative bleeding; however, several limitations of the classical instruments should be stated. For example, reaching bleeding points in an anatomically angled site with straightforward bipolar devices could be quite difficult. With the aim of solving this problem, we developed a simple system using a standard curved suction tube, a rubber catheter and a monopolar system. This device provides an integrated suction function and is able to reach all paranasal and skull base areas, making it extremely useful in gaining precise access to the site of bleeding while providing excellent endoscopic vision. The described monopolar suction tube has proven to be a valid instrument for intraoperative hemostasis in endoscopic procedures; moreover, it does not add any further cost, making it applicable in particular healthcare settings, such as those in developing countries.


Subject(s)
Cautery/instrumentation , Endoscopy , Hemorrhage/surgery , Hemostasis, Surgical/instrumentation , Intraoperative Complications/surgery , Paranasal Sinuses/surgery , Equipment Design , Hemostasis, Surgical/methods , Humans , Medical Illustration , Neurosurgical Procedures , Photography , Skull Base/surgery , Suction/instrumentation
17.
J Craniomaxillofac Surg ; 44(4): 512-20, 2016 Apr.
Article in English | MEDLINE | ID: mdl-26857760

ABSTRACT

BACKGROUND: This paper describes our experience in the management of acute and chronic invasive fungal rhinosinusitis (IFRS) in adults. METHODS: Medical files of all patients aged >18 years treated in our institutions for IFRS from 2002 to 2013 were retrospectively reviewed. RESULTS: A total of 18 cases (10 acute and 8 chronic) were recorded. In acute form, haematological malignancies represented the principal comorbidity (100%), while in chronic form this was diabetes mellitus (87.5%). All patients received systemic antifungal agents. Endoscopic sinus surgery was performed in 16/18 patients (88.9%). Among patients with an acute IFRS, 4/10 died of fungal infection (40%), on the other side 2/8 patients with chronic IFRS died of the evolution of the mycosis (25%). CONCLUSIONS: Acute and chronic IFRS are different entities: in acute form, prognosis is poor, so therapy should be promptly performed, although host immune status and evolution of the haematological disease are key factors for the outcome. In chronic form, a wide surgical excision of the disease is recommended in order to obtain a complete removal of fungal infection. In both forms, early clinical findings are non-specific and ambiguous, so diagnosis depends on a high index of suspicion, taking into account predisposing factors.


Subject(s)
Antifungal Agents/therapeutic use , Mycoses , Rhinitis/diagnosis , Sinusitis/diagnosis , Sinusitis/drug therapy , Adult , Humans , Mycoses/diagnosis , Mycoses/drug therapy , Paranasal Sinuses , Rhinitis/drug therapy , Rhinitis/microbiology , Sinusitis/microbiology
18.
World Neurosurg ; 86: 470-7, 2016 Feb.
Article in English | MEDLINE | ID: mdl-26626813

ABSTRACT

OBJECTIVE: Spontaneous cerebrospinal fluid leaks are most commonly located along the anterior skull base. Sphenoidal localization is less common, and clival localization is even rarer. We analyzed a group of patients with spontaneous leaks and selected patients with clival localization. This article discusses surgical management of these entities and provides a brief literature review regarding spontaneous clival leaks. METHODS: Of a cohort of 67 patients who presented to our departments with a spontaneous leak during the period 2005-2014, a retrospective data analysis was performed on 6 patients with clival localization of the defect. A skull base repair with a multilayered reconstruction was performed in 3 patients, and a single-layered reconstruction using a pedicled nasoseptal flap was performed in 3 patients. RESULTS: The patients included 6 women with a mean age of 60 years (range, 36-91 years). The mean length of the follow-up period was 69.5 months (range, 22-114 months). The overall success rate of the primary endoscopic repair was 83.3% (5 of 6 patients); this increased to 100% after revision surgery. CONCLUSIONS: This series, although numerically limited, suggests that a minimally invasive endoscopic repair of idiopathic clival leaks may be accomplished with an acceptable rate of morbidity and excellent outcomes. Moreover, the pedicled nasoseptal flap has been confirmed to be the "workhorse" for the reconstruction of clival defects.


Subject(s)
Cerebrospinal Fluid Leak/surgery , Endoscopy/methods , Adult , Aged , Aged, 80 and over , Cerebrospinal Fluid Leak/diagnosis , Cerebrospinal Fluid Leak/etiology , Cranial Fossa, Posterior , Female , Humans , Male , Middle Aged
19.
Lancet Haematol ; 2(11): e465-73, 2015 Nov.
Article in English | MEDLINE | ID: mdl-26686256

ABSTRACT

BACKGROUND: Hereditary haemorrhagic telangiectasia is a genetic disease that leads to multiregional angiodysplasia. Severe recurrent epistaxis is the most common presentation, frequently leading to severe anaemia. Several therapeutic approaches have been investigated, but they are mostly palliative and have had variable results. We aimed to assess the efficacy of thalidomide for the reduction of epistaxis in patients with hereditary haemorrhagic telangiectasia that is refractory to standard therapy. METHODS: We recruited patients aged 17 years or older with hereditary haemorrhagic telangiectasia who had severe recurrent epistaxis refractory to minimally invasive surgical procedures into an open-label, phase 2, non-randomised, single-centre study at IRCCS Policlinico San Matteo Foundation (Pavia, Italy). We gave patients thalidomide at a starting dose of 50 mg/day orally. If they had no response, we increased the thalidomide dose by 50 mg/day increments every 4 weeks, until a response was seen, up to a maximum dose of 200 mg/day. After patients had achieved a response, they continued treatment for 8-16 additional weeks. The primary endpoint was the efficacy of thalidomide measured as the percentage of patients who had reductions of at least one grade in the frequency, intensity, or duration of epistaxis. We followed up patients each month to assess epistaxis severity score and transfusion need, and any adverse events were reported. We included all patients who received any study drug and who participated in at least one post-baseline assessment in the primary efficacy population. The safety population consisted of all patients who received any dose of study treatment. This trial is registered with ClinicalTrials.gov, number NCT01485224. FINDINGS: Between Dec 1, 2011, and May 12, 2014, we enrolled 31 patients. Median follow-up was 15·9 months (IQR 10·1-22·3). Three (10%, 95% CI 2-26) patients had a complete response, with bleeding stopped, 28 (90%, 95% CI 74-98) patients had partial responses. Overall, all 31 (100%, 89-100) patients responded to therapy with a significant decrease in all epistaxis parameters (p<0·0001 for frequency, intensity, and duration). A response was achieved by 25 (81%) patients at 50 mg/day of thalidomide, five (16%) patients at 100 mg/day, and one (3%) patient at 150 mg/day. Patients had only non-serious, grade 1 adverse effects, the most common of which were constipation (21 patients), drowsiness (six patients), and peripheral oedema (eight patients). One patient died a month after the end of treatment, but this was not deemed to be related to treatment. INTERPRETATION: Low-dose thalidomide seems to be safe and effective for the reduction of epistaxis in patients with hereditary haemorrhagic telangiectasia. Our findings should be validated by further studies with larger patient populations, longer follow-up, and that also assess the benefit for quality of life. FUNDING: Telethon Foundation.


Subject(s)
Epistaxis/drug therapy , Telangiectasia, Hereditary Hemorrhagic/complications , Thalidomide/therapeutic use , Aged , Female , Humans , Italy , Male , Middle Aged , Quality of Life , Thalidomide/administration & dosage , Treatment Outcome
20.
Int J Pediatr Otorhinolaryngol ; 79(12): 2137-41, 2015 Dec.
Article in English | MEDLINE | ID: mdl-26478108

ABSTRACT

OBJECTIVE: Adenoid hypertrophy (AH) is very common in children and can cause airway obstruction. The aim of this retrospective study was to investigate the relationship between AH and other factors, including age, possible related symptoms, and allergies. METHODS: Seven hundred and ninety-five patients (460 males, 335 females; mean age=5.9 years; range age: 1-14 years) were seen in an ENT clinic for nasal symptoms. Nasal endoscopy was performed with a pediatric flexible endoscope. One hundred and sixty-nine patients had documented allergy sensitization. Patients were divided into two groups according to their age: group 1 included children aged 1-7 years, and group 2 included subjects aged 8-14 years. RESULTS: Adenoid size was related to age (p<0.0001). A logistic regression model - performed to evaluate adenoid grade considering, as dependent variables, age, sex, and the presence or absence of symptoms - was statistically significant (p<0.001). Moreover, AH was more common (p=0.0104) in patients with allergy sensitization, in particular in patients aged 8-14 years (p=0.0043). Nasal obstruction (OR=3.27) significantly predicted AH, whereas major age was not associated with pathological AH (OR=0.81). CONCLUSIONS: The present retrospective study described the relationship between AH and other demographic and clinical factors. In conclusion, our findings demonstrated a significant association among pathological AH, age, and nasal obstruction.


Subject(s)
Adenoids/pathology , Adolescent , Age Factors , Child , Child, Preschool , Cohort Studies , Endoscopy , Female , Humans , Hypersensitivity/etiology , Hypertrophy/complications , Infant , Male , Nasal Obstruction/etiology , Retrospective Studies
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