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Aniridia is a panocular disease characterized by iris hypoplasia, accompanied by other ocular manifestations, with a high clinical variability and overlapping with different abnormalities of the anterior and posterior segment. This review focuses on the genetic features of this autosomal dominant pathology, which is caused by the haploinsufficiency of the PAX6 gene. Mutations causing premature stop codons are the most frequent among the wider mutational spectrum of PAX6, with more than 600 different mutations identified so far. Recent advances in next-generation sequencing (NGS) have increased the diagnostic yield in aniridia and contributed to elucidate new etiopathogenic mechanisms leading to PAX6 haploinsufficiency. Here, we also update good practices and recommendations to improve genetic testing and clinical management of aniridia using more cost-effective NGS analysis. Those new approaches also allow studying simultaneously both structural variants and point-mutations in PAX6 as well as other genes for differential diagnosis, simultaneously. Some patients with atypical phenotypes might present mutations in FOXC1 and PITX2, both genes causing a wide spectrum of anterior segment dysgenesis, or in ITPR1, which is responsible for a distinctive form of circumpupillary iris aplasia present in Gillespie syndrome, or other mutations in minor genes. Since aniridia can also associate extraocular anomalies, as it occurs in carriers of PAX6 and WT1 microdeletions leading to WAGR syndrome, genetic studies are crucial to assure a correct diagnosis and clinical management, besides allowing prenatal and preimplantational genetic testing in families., (Copyright © 2021 The Authors. Publicado por Elsevier España, S.L.U. All rights reserved.)

Introduction: Spasticity is a frequent clinical sign in people with neurological diseases that affects mobility and causes serious complications: pain, joint limitation, muscular contractions and bed sores, which have a significant effect on the individual's functionality and quality of life., Aim: To review the integration, description and critical interpretation of the most recent scientific evidence on the clinical variability of spasticity and associated symptoms, the different pathophysiological mechanisms and their relevance in the diagnostic and therapeutic approach., Development: A search was conducted in the scientific publications on the different aspects of spasticity grouped into two main categories: cerebral and spinal cord pathologies. The epidemiological, clinical and pathophysiological aspects, clinical and instrumental diagnoses, and the physiotherapeutic, pharmacological and surgical approach to spasticity in each group of pathologies were all reviewed., Conclusion: Spasticity is related to structural lesions and maladaptive neuroplastic changes that determine an important variability in its clinical expression. Although its diagnosis presents important limitations, the use of clinical and neurophysiological diagnostic tools aimed at achieving different approaches in cases of neurological pathologies originating in the brain and in the spinal cord could optimise the effectiveness of spasticity therapies.

Introduction: The management of antithrombotic therapy after intracerebral hemorrhage (ICH) in anticoagulated patients is not well defined. We analyzed the risks and benefits of antiplatelet therapy (AG) against the resumption of anticoagulation with vitamin K antagonists (AVK) in a series of patients., Material and Methods: Retrospective study of ICH in anticoagulated patients. We registered demographic data, history of hypertension (HT), time of follow-up and new cerebral vascular events (ICH, stroke [IC])., Results: We evaluated 88 patients, mean age 69±9 years, 50% men, 73% hypertensive. During the acute phase 18 patients died and the follow-up was lost in 31. Of the remaining (n=39), AVKs were resumed in 25 and changed to AG in 14. Comparing the characteristics of both groups, the anticoagulated group was younger (P=.005) and the embolic sources were more often of higher risk (P=.003). After an average follow-up of 54±31 months, the distribution of events was: IC (AVKs 8%, AG 14.3%, P=.6), ICH (AVKs 24%, AG 7.1%, P=.38), IC or ICH (AVKs 32%, AG 21.4%, P=.48) and death (AVKs 29%, AG 7.1%, P=.21). This trend of increased risk of new events in patients with AVKs was confirmed by Kaplan-Meier curves, although without statistical differences., Conclusions: Restarting AVK treatment after ICH in anticoagulated patients could increase the risk of new bleeding events and mortality. Prospective studies are needed to define a better and appropriate antithrombotic therapy after ICH related with anticoagulation., (Copyright © 2011 Sociedad Española de Neurología. Published by Elsevier Espana. All rights reserved.)

Introduction: The immigrant population (IP) is visiting neurology departments on an increasingly more frequent basis. Research has still not made it clear whether there are geographical differences in the prevalence of primary headaches and the possible influence of emigration., Patients and Methods: We conducted a retrospective (12 months) and prospective study (18 months) of the first visits to the Headache Unit at the Hospital de la Santa Creu i Sant Pau. Data collected included the country of birth, time parameters of the headache and of the immigration, diagnoses according to the criteria of the IHS and treatments that had been used. Related headaches were considered to be those that began within one year of having immigrated., Results: The IP represents 13.6% (n = 142) of the total number of first visits because of headaches (n = 1044). Immigrants came mostly from Latin America (83.9%). Headaches began after immigration in 40.1% of cases without the existence of any temporal relation with immigration. The distribution of the diagnoses of headache is similar to those of the local population, the most frequent being migraine (57.7%) and tension-type headache (15.5%). On comparing treatments prior to and following immigration, we find differences in the use of triptans (2.1% versus 46.2%), ergotamine (9.8% versus 2.1%) and in the use of preventive treatments (2% versus 45%)., Conclusions: The IP accounts for 13% of all first visits due to headaches and their diagnoses are similar to those of the local population. Emigration is neither a precipitating nor an aggravating factor for headaches in our series. There is a significant difference in symptomatic and preventive treatment between the period prior to immigration and afterwards.

ACTH dependent Cushing syndrome accounts for approximately 80% of all Cushing syndrome. Distinguishing the pituitary origin from ectopic one is still a diagnosis problem in some cases, especially in bronchial carcinoids, because approximately 50% show cortisol suppresion after dexametasone and may be small and, therefore, difficult to detect in chest radiography. We present a case of a patient with ACTH dependent Cushing syndrome of difficult localization with usual diagnosis tests.

Pheochromocytoma is a tumor derived from the chromaffin cells of the adrenal medulla. When this type of tumor involves the sympathetic ganglia it is called paraganglioma. Although infrequent, paraganglioma should be considered in the evaluation of hypertension, arrhythmias, and panic disorder. We report the case of a woman with bladder pheochromocytoma and a hepatic lesion. MIBG scintigraphy showed non-physiological uptake, which was interpreted as a false positive result., (Copyright © 2008 Sociedad Española de Endocrinología y Nutrición. Published by Elsevier Espana. All rights reserved.)

We report an infant with auditory neuropathy secondary to the Q829X mutation in the gene encoding otoferlin (OTOF). Included in a universal newborn hearing screening program, the subject passed the otoacoustic emission (OAEs) test. Given that the infant had a familial history of deafness auditory brainstem response (ABR) testing was performed, revealing a profound hearing impairment. The genetic study confirmed that the subject was homozygous for the Q829X mutation in OTOF. The patient underwent a cochlear implant, obtaining satisfactory results. The moderately high prevalence of this mutation in the Spanish population could produce a significant false negative rate in newborn hearing screening programs using OAEs.

Introduction: The most frequent mutations responsible for non-syndromic hearing impairment in the Spanish population are the 35delG mutation in the connexin 26 gene (GJB2), the del(GJB6-D13S1830) deletion in the connexin 30 gene (GJB6), the Q829X mutation in the otoferlin gene (OTOF), and the A1555G mutation in the 12S rRNA gene of the mitochondrial genome., Patients and Methods: Screening for these mutations was performed on 38 patients from Cantabria with non-syndromic sensorineural hearing impairment of congenital/childhood onset., Results: The A1555G mutation was detected in homoplasmy in 9 patients (23.7%). Three individuals were heterozygous for the 35delG mutation (7.9%). The heterozygous del(GJB6-D13S1830) deletion was present in one case (2.6%). One subject was homozygous for the Q829X mutation (2.6%)., Conclusions: These four mutations are present in 36.8% of all cases of non-syndromic hearing impairment in our population.

Objective: To determine the features of hearing loss due to the Q829X mutation in the OTOF gene, the third most frequent mutation causing prelingual deafness reported so far in the Spanish population., Materials and Methods: We carried out genetic characterisation of 16 individuals from a consanguineous family from Cantabria, in which 4 members were affected by deafness., Results: All 4 hearing impaired individuals were homozygous for the Q829X mutation in the OTOF gene. The auditory defect was a profound, bilateral, symmetrical, sensorineural hearing loss of prelingual onset. No other clinical alterations were observed. Individuals heterozygous for the Q829X mutation were unaffected., Conclusions: The Q829X mutation in the OTOF gene causes severe to profound sensorineural hearing loss of prelingual onset. Early detection of individuals carrying this mutation is important for the application of palliative treatment and special education.

Objective: To examine the audiometric patterns of familial hearing impairment due to the A1555G mutation in the mitochondrial DNA., Patients and Methods: We include 55 subjects with the A1555G mutation from 6 unrelated families, affected by nonsyndromic sensorineural hearing loss and residing in Cantabria. The A1555G mutation was found in homoplasmy in all the families, except in one family, in which it was in heteroplasmy. Aside from standard history taking and general otolaryngological examination, pure tone audiometry was carried out in all patients., Results: Hearing loss was developed by most of the patients. The auditory defect was a slowly progressive bilateral symmetrical sensorineural hearing loss, affecting mainly the high frequencies. In patients in which aminoglycoside ototoxicity could be excluded, hearing loss usually ranged from mild to moderate, with a late onset. In 17 cases there were previous history of treatment with a ototoxic drugs, and most of them developed severe hearing loss. One of them was deaf-mute. No audometric differences between families with the homoplasmic and the heteroplasmic A1555G mutation were observed., Conclusions: Patients with the A1555G mutation generally present bilateral symmetrical sensorineural hearing loss, ranging from mild to moderate, slowly progressive, which is obvious approximately in the second decade of life and affects specially the high frequencies. Hearing loss severity is increased by treatment with aminoglycosides.

Introduction: Sensorineural deafness is a very common disorder in humans, which affects approximately 10% of the population. Genetic causes are suggested to be responsible for more than half of the cases. The A1555G mutation in the mitochondrial 12S rRNA gene and the 35delG mutation in the GJB2 gene are the most common mutations for sensorineural deafness in the Spanish population., Methods: A genetic study was carried out in order to determine the frequency of the mutations A1555G in the mitochondrial DNA and 35delG in the connexin-26 gene in 21 patients from 21 non-consanguineous unrelated families affected by late-onset bilateral non-syndromic sensorineural hearing loss from Cantabria., Results: The A1555G mutation was found in 6 patients. Five of these 6 patients had been treated with aminoglycosides. In all of them the auditory impairment affected mainly the high frequencies. The 35delG mutation was not found in any of the patients., Conclusions: The A1555G mutation in the mitochondrial DNA has been found to be the most common amongst the Cantabrian population. The A1555G mutation should be suspected in those members of families affected by sensorineural hearing impairment with a maternal inheritance pattern and ototoxicity from treatment with aminoglycoside antibiotics. The 35delG mutation in the GJB2 gene does not seem to be a major cause of deafness in families with late-onset non-syndromic sensorineural hearing loss in our area.

This case report presents a cardiac hydatidosis with multiple embolisms on several vascular territories, such as right popliteal artery, which was treated by embolectomy. Convenience of surgical approach, followed by medical treatment, in order to avoid a new recurrence, and periodical controls every 3-6 months (at least) during several years after disease, was evaluated.