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2.
Sensors (Basel) ; 23(22)2023 Nov 10.
Article in English | MEDLINE | ID: mdl-38005471

ABSTRACT

Noise pollution is a growing problem in urban areas, and it is important to study and evaluate its impact on human health and well-being. This work presents the design of a low-cost IoT model and implementation of two prototypes to collect noise level data in a specific area of the regional center of Chiriquí, at the Technological University of Panama that can be replicated to create a noise monitoring network. The prototypes were designed using Autodesk Fusion 360, and the data were stored in a MySQL database. Microsoft Excel and ArcGIS Pro were used to analyze the data, generate graphs, and display the information on maps. The results of the analysis can be used to develop strategies to reduce noise pollution and improve the quality of life in urban areas.

3.
J Pharm Bioallied Sci ; 15(Suppl 1): S403-S408, 2023 Jul.
Article in English | MEDLINE | ID: mdl-37654376

ABSTRACT

Background: Hearing impairment (HI) is the most common global disabling condition. It is a considerable public health condition in childhood that is associated with long-term socio-emotional-academic, and communication difficulties. The current study explored the knowledge and awareness of HI among school-age children and its related factor in Taif, Saudi Arabia. Materials and Methods: A cross-sectional study was done on 268 Saudi school-age children in the population of the Taif region of Saudi Arabia. A predesigned questionnaire was used to collect their demographic data, consanguinity, education level, and academic performance. Results: About 45.9% of parents had good awareness related to hearing loss and its impact on children's life. Only 19% (n = 51) of parents reported that their children encountered language problems in communicating with others. When we assessed the relationship between this language problem and academic performance, it was found that children with language problems had below-average academic performance (P < 0.001). Conclusion: The study showed that parents' awareness about children's hearing was not that satisfactory, and there was a considerable amount of difficulties faced by the children in their personal and social life due to these hearing problems. It is imperative to create awareness among the public regarding various modifiable risk factors of HI by conducting health awareness campaigns.

4.
Rev. neurol. (Ed. impr.) ; 76(10): 315-320, May 16, 2023. ilus, graf, tab
Article in Spanish | IBECS | ID: ibc-220501

ABSTRACT

Introducción: Existen pocos estudios que describan los resultados de la evaluación de la vía auditiva en pacientes con antecedente de hemorragia intraventricular (HIV) durante los primeros años de vida. La hipoacusia puede presentarse desde los grados iniciales de la HIV. Los potenciales evocados auditivos del tallo cerebral (PEATC) son una herramienta útil para diagnosticar alteraciones de la vía auditiva en la infancia temprana. El objetivo del presente estudio fue describir los hallazgos en los PEATC en pacientes menores de 2 años con antecedente de HIV. Pacientes y métodos: Es un estudio observacional retrospectivo realizado en pacientes menores de 2 años con antecedente de HIV enviados a nuestro hospital para la realización de PEATC en un período de tres años. Se excluyó a pacientes con síndromes genéticos asociados a hipoacusia. A través de los PEATC se evaluó la presencia o la ausencia de respuesta bioeléctrica y latencias de las ondas I, III y V, así como de los intervalos I-III, III-V y I-V, además de su morfología, amplitud, sincronía y la replicabilidad. Se realizó un análisis de tipo descriptivo con cálculo de frecuencias y porcentajes. Resultados: Se incluyó a un total de 122 pacientes. El 51% de ellos tenía antecedente de HIV de grado I; el 42%, de grado II; y el 7%, de grados III o IV. La respuesta bioeléctrica se obtuvo en 243 vías auditivas (99,6%). La morfología se encontró alterada en el 6,2% de las vías auditivas, mientras que las amplitudes estuvieron disminuidas en el 2,5% de las evaluadas. Las latencias para las ondas I y III se encontraron prolongadas en el 2%, y, para la onda V, en el 3,6% de los pacientes. El umbral auditivo fue normal en el 64,8%, y el 35,2% de los casos presentó hipoacusia. Conclusiones: La prevalencia de la hipoacusia fue alta en la muestra analizada. Se recomienda realizar el seguimiento mediante PEATC de forma sistemática con la finalidad de detectar y atender oportunamente problemas...(AU)


Introduction: There are few studies that describe the results of auditory pathway assessment in patients with a history of intraventricular haemorrhage (IVH) during the early years of life. Hypoacusis can occur from the earliest stages of IVH. Brainstem auditory evoked potentials (BAEPs) are a useful tool for diagnosing auditory pathway disorders in early childhood. The aim of the present study was to describe the BAEPs findings in patients under 2 years of age with a history of IVH. Patients and methods: We conducted a retrospective observational study in patients under 2 years of age with a history of IVH referred to our hospital for BAEPs over a period of three years. Patients with genetic syndromes associated with hypoacusis were excluded. BAEPs were used to evaluate the presence or absence of any bioelectrical response and latencies of waves I, III and V, as well as of the intervals I-III, III-V and I-V, and also their morphology, amplitude, synchrony and reproducibility. A descriptive analysis was carried out with the calculation of frequencies and percentages. Results: A total of 122 patients were included. Fifty-one per cent of them had a history of Grade I IVH; 42%, Grade II; and 7%, Grades III or IV. A bioelectrical response was obtained in 243 auditory pathways (99.6%). The morphology was found to be altered in 6.2% of the auditory pathways, while amplitudes were decreased in 2.5% of those tested. Latencies for waves I and III were found to be prolonged in 2% and for wave V in 3.6% of patients. The hearing threshold was normal in 64.8%, and 35.2% of cases presented hypoacusis.Conclusions: The prevalence of hypoacusis was high in the sample analysed. Systematic follow-up using BAEPs is recommended in order to detect and treat problems in the auditory pathway in patients with IVH in a timely manner.(AU)


Subject(s)
Humans , Male , Female , Child, Preschool , Brain Stem , Cerebral Intraventricular Hemorrhage , Evoked Potentials, Auditory , Hearing Loss , Neurology , Retrospective Studies
5.
Medicina (Kaunas) ; 58(9)2022 Sep 09.
Article in English | MEDLINE | ID: mdl-36143929

ABSTRACT

(1) Background: In this paper, we report on three cases of hypoacusis as part of a complex phenotype and some rare gene variants. An extensive review of literature completes the newly reported clinical and genetic information. (2) Methods: The cases range from 2- to 11-year-old boys, all with a complex clinical picture and hearing impairment. In all cases, whole exome sequencing (WES) was performed, in the first case in association with mitochondrial DNA study. (3) Results: The detected variants were: two heterozygous variants in the TWNK gene, one likely pathogenic and another of uncertain clinical significance (autosomal recessive mitochondrial DNA depletion syndrome type 7-hepatocerebral type); heterozygous variants of uncertain significance PACS2 and SYT2 genes (autosomal dominant early infantile epileptic encephalopathy) and a homozygous variant of uncertain significance in SUCLG1 gene (mitochondrial DNA depletion syndrome 9). Some of these genes have never been previously reported as associated with hearing problems. (4) Conclusions: Our cases bring new insights into some rare genetic syndromes. Although the role of TWNK gene in hearing impairment is clear and accordingly reflected in published literature as well as in the present article, for the presented gene variants, a correlation to hearing problems could not yet be established and requires more scientific data. We consider that further studies are necessary for a better understanding of the role of these variants.


Subject(s)
DNA Helicases , Hearing Loss , DNA Helicases/genetics , DNA, Mitochondrial/genetics , Hearing Loss/genetics , Humans , Mitochondrial Proteins , Mutation/genetics , Romania
6.
Ann Med Surg (Lond) ; 75: 103468, 2022 Mar.
Article in English | MEDLINE | ID: mdl-35386810

ABSTRACT

Very few pediatric cases of arachnoid cyst of ponto-cerebellar angle are described in the literature. Only 4 are described with hearing loss. It is a pathology which poses especially a problem of early diagnosis. In this paper we describe the management of a 16-year-old patient with an arachnoid cyst of the cerebellopontine angle with an isolated auditory deficit that was treated surgically. The follow up was marked by a Full recovery of hearing after surgical treatment. Arachnoid cyst of the cerebellopontine angle is rare in the pediatric population. early surgical management help to increase the chances of recovery.

7.
CoDAS ; 34(1): e20200379, 2022. tab, graf
Article in Spanish | LILACS-Express | LILACS | ID: biblio-1350634

ABSTRACT

RESUMEN Objetivo Investigar la participación de estudiantes universitarios en actividades de ocio productoras de ruido y la relación entre los niveles de exposición semanal al ruido recreativo y síntomas de hipoacusia auto reportados, en la ciudad de Barranquilla, Colombia. Método Se realizó un estudio transversal mediante encuesta virtual, basada en el Cuestionario de Exposición al Ruido, más 11 preguntas de síntomas auditivos, a una muestra aleatoria de 730 sujetos. El nivel de exposición semanal al ruido recreativo se estimó a partir del tiempo dedicado al total de actividades recreativas reportadas por los participantes y su evaluación subjetiva de la intensidad de ruido producida por cada actividad, transformada en niveles de ruido continuo equivalente. La asociación entre la exposición al ruido recreativo y la presencia de síntomas de hipoacusia se analizó mediante la prueba de Chi-cuadrado. Resultados El 93% de los participantes manifestó al menos un síntoma de hipoacusia y la mitad reportó cuatro o más. El síntoma más frecuente de hipoacusia asociada al ruido fue el tinnitus (72%). El 55% tenía una exposición semanal de ruido por encima de 85 dBA y en éstos la prevalencia de síntomas de hipoacusia fue mayor (p < 0.05). Conclusión Se sugiere la presencia de deterioro auditivo en gran parte la población universitaria, asociado con altas dosis de exposición semanal al ruido recreativo. Es necesario fortalecer los programas de promoción de la salud auditiva en la academia, y desde los servicios de salud, la valoración objetiva y periódica de la audición.


ABSTRACT Purpose The aim of this study was to investigate the total weekly exposure to leisure noise among university students and to assess its association with self-reported symptoms of hypoacusis. Methods This is a cross-sectional survey. An online questionnaire based on the "Noise Exposure Questionnaire", plus 11 questions regarding hearing loss were sent to 730 randomly selected students. Participants self-reported time spent on different leisure noise activities and their subjective evaluation of the loudness of these activities, converted into equivalent noise levels, were used to estimate weekly noise exposure levels that were compared to occupational noise limits (> 85 dBA = hazardous). Inference statistics was applied to relate hearing symptoms and "likely or having some degree of hearing loss" with hazardous weekly leisure noise exposure levels. Results Ninety-three percent of the participants reported at least one hypoacusis symptom. The most frequent sound-related ear symptom was tinnitus (72%). Fifty-five percent of the individuals presented weekly exposure to noise >85 dBA. Symptoms of hearing loss were more prevalent in those exposed to weekly noise levels >85 dBA. Conclusion This study suggests that there may be hearing loss caused by exposure to high levels of leisure noise in a large part of the study population. Health promotion of hearing conservation should be emphasized at university level. Objective repeated measurement of hearing acuity should be part of integral health services for the youth population.

8.
Dement. neuropsychol ; 15(4): 548-549, Oct.-Dec. 2021. graf, il
Article in English | LILACS | ID: biblio-1350690

ABSTRACT

ABSTRACT. We reported a case of a 61-year-old male patient with anacusis, cerebellar syndrome, myoclonus, and frontal signs. The brain magnetic resonance imaging showed bilateral striated hyperintensity of the fluid-attenuated inversion recovery and restricted diffusion in the diffusion-weighted imaging and hypointense areas corresponding to the apparent diffusion coefficient in the cerebral cortex. The autopsy revealed positive immunohistochemistry for the PrPSc protein. Creutzfeldt-Jakob disease presenting with hearing loss is unusual.


RESUMO. Relatamos o caso de um paciente do sexo masculino, 61 anos, com anacusia, síndrome cerebelar, mioclonia e sinais frontais. A ressonância magnética cerebral mostrou hiperintensidade estriada bilateral do fluid-attenuated inversion recovery (FLAIR) e difusão restrita no diffusion-weighted imaging (DWI) e áreas hipointensas correspondendo ao coeficiente de difusão aparente no córtex cerebral. A autópsia revelou imuno-histoquímica positiva para a proteína PrPSc. A doença de Creutzfeldt-Jakob que se apresenta com perda auditiva é incomum.


Subject(s)
Humans , Male , Middle Aged , Creutzfeldt-Jakob Syndrome , Symptom Assessment , Hearing Loss, Bilateral
9.
Diagnostics (Basel) ; 11(11)2021 Nov 02.
Article in English | MEDLINE | ID: mdl-34829373

ABSTRACT

INTRODUCTION: The objective of this randomized controlled study was to demonstrate whether acoustic stimulation in utero is associated with fetal reactivity which is documentable by cardiotocography. MATERIALS AND METHODS: A monocentric randomized controlled trial was performed at a single university tertiary hospital between September 2016 and July 2017. This study was registered as a randomized clinical trial on clinicaltrail.gov (registration number NCT04622059). Unselected pregnancies at term of gestation were consecutively recruited for the purpose of this study. After 10 min of normal cardiotocography without accelerations (non-stress-test with a basal frequency between 110 and 150 beats/min, normal variability between 6 and 15 b/min, no accelerations, and no fetal movements), fetuses were randomized at a 1:1 ratio to either of the two groups. Fetuses in group A (n = 105) received acoustic stimulation after 10 min from the beginning of the CTG, whereas fetuses in group B received no stimulation (n = 105). The outcome variables investigated were the lapse of time between the beginning of the CTG and the occurrence of the first acceleration, and the lapse of time between the beginning of the CTG and the first fetal movement noticed. RESULTS: The lapse of time between the beginning of the CTG and the occurrence of the first acceleration was significantly shorter in the group with acoustic stimulation compared to the other group (14.87 ± 5.01 vs. 21.90 ± 6.94 min, p-value < 0.001 log-rank test). Similarly, the lapse of time between the beginning of the CTG and the occurrence of the first fetal movement was significantly shorter in group A compared to group B (17.77 ± 7.62 vs. 23.28 ± 7.61 min, p-value < 0.001, log-rank test). Fetal cardiac acceleration and the occurrence of a fetal movement during the first 20 min of the CTG were more frequently recorded in group A compared to group B (respectively, 15% vs. 5% and 20% vs. 8%). CONCLUSION: This RCT showed an early fetal reaction following auditive stimulus, documentable by cardiotocography. Further research is needed to investigate a possible role of acoustic stimulation in utero for the prenatal diagnosis of congenital hypoacusis.

10.
Pol Merkur Lekarski ; 49(293): 361-363, 2021 Oct 22.
Article in English | MEDLINE | ID: mdl-34800024

ABSTRACT

Musical hallucinations (MHs), a kind of auditory hallucinations (AHs), are a rarely observed phenomenon of abnormal perception of sound in the absence of an external auditory source. MHs are characterized by perception of melodies, music, or songs. AHs/MHs can be associated with hypoacusis, psychiatric or neurological diseases, intoxication and adverse reactions of different medications (e.g., propranolol, amantadine, voriconazole). A CASE REPORT: The authors present a case of a 77-year-old male with advanced heart failure, recurrent episodes of atrial fibrillations and moderate hypoacusis, who mistakenly overdosed oral amiodarone (6 pills 200 mg each daily within 3 days). After administration of 12 pills during 2 days, he started hearing music and songs not heard by others. One day later, when the number of ingested pills increased to 18, he decided to discontinue amiodarone and consulted a cardiologist; no signs of physical, ECG or laboratory deterioration were observed. MHs disappeared next day and returned only as a single episode when he tried to restart amiodarone at a dose of 1 pill daily 2 weeks later. Finally, following complete removal of the medication, he experienced no MHs whatsoever. Amiodarone is known to seldom cause neurological or mental complications; however, MHs after the drug have never been reported so far.


Subject(s)
Amiodarone , Hearing Loss , Music , Nervous System Diseases , Aged , Amiodarone/adverse effects , Hallucinations/chemically induced , Humans , Male
11.
Ann Med Surg (Lond) ; 71: 102939, 2021 Nov.
Article in English | MEDLINE | ID: mdl-34703589

ABSTRACT

The sphenoid bone is a complex structure in terms of its embryological origin. At birth, the sphenoid sinus is not pneumatised. Pneumatisation begins at around 4 months of age until the age of 12-14 years. If this process is absent or interrupted for reasons that are often unknown, it is called arrested pneumatisation. This report describes the case of a 15 year old patient, who consulted an ENT specialist for chronic headaches and hearing loss on the left side. Clinical ENT examination (including otoscopy) is normal. Tonal audiometry revealed a sensorineural hearing loss in the left ear. A CT scan of the petrous bone was normal but revealed a hypodense lesion in the left sphenoid bone. Lipoma was suggested. A brain MRI was performed in a clinic to better characterize the lesion. MR images showed a well-defined lesion with fatty content. The diagnosis was nasosinus fibrous dysplasia. In view of the diagnostic discrepancy, the patient was referred to our department for a specialist opinion. An additional brain scan revealed a non-eroded, non-expansive fatty density lesion with well-defined internal curvilinear calcification in the left sphenoid sinus location. Our final diagnosis was arrested pneumatisation. Most patients with arrested pneumatization of the skull base are asymptomatic. Sometimes it may be revealed by nonspecific signs and be confused with severe skull base disease, especially if the radiologist is not familiar with its existence or its typical features.

12.
Dement Neuropsychol ; 15(4): 548-549, 2021.
Article in English | MEDLINE | ID: mdl-35509806

ABSTRACT

We reported a case of a 61-year-old male patient with anacusis, cerebellar syndrome, myoclonus, and frontal signs. The brain magnetic resonance imaging showed bilateral striated hyperintensity of the fluid-attenuated inversion recovery and restricted diffusion in the diffusion-weighted imaging and hypointense areas corresponding to the apparent diffusion coefficient in the cerebral cortex. The autopsy revealed positive immunohistochemistry for the PrPSc protein. Creutzfeldt-Jakob disease presenting with hearing loss is unusual.


Relatamos o caso de um paciente do sexo masculino, 61 anos, com anacusia, síndrome cerebelar, mioclonia e sinais frontais. A ressonância magnética cerebral mostrou hiperintensidade estriada bilateral do fluid-attenuated inversion recovery (FLAIR) e difusão restrita no diffusion-weighted imaging (DWI) e áreas hipointensas correspondendo ao coeficiente de difusão aparente no córtex cerebral. A autópsia revelou imuno-histoquímica positiva para a proteína PrPSc. A doença de Creutzfeldt-Jakob que se apresenta com perda auditiva é incomum.

13.
J Formos Med Assoc ; 120(1 Pt 1): 107-120, 2021 Jan.
Article in English | MEDLINE | ID: mdl-32473863

ABSTRACT

Age-related hearing loss (ARHL) is a major and increasingly prevalent health problem worldwide, causing disability and social isolation in the people who present it. This impairment is caused by genetic and environmental factors. Nutritional status has been identified as a related risk associated with hearing loss (HL). This scoping review aimed to characterize the links between HL and nutritional status. PubMed, Embase, Cochrane and Scopus databases were searched up to December 2019. Studies examining the relation between nutrition and dietary habits and HL were included. After screening 3510 citations, 22 publications were selected for inclusion in the current review, all of which were published between 2010 and 2019. Diets rich in saturated fats and cholesterol have deleterious effects on hearing that could be prevented by lower consumption. Conversely, greater consumption of fruit and vegetables, and of polyunsaturated fatty acids (omega-3) and anti-oxidants in the form of vitamins A, C, and E, prevent the development of ARHL. The current literature suggests a possible association between nutritional status and hearing loss. More studies are needed to better characterize the clinical consequences of this association.


Subject(s)
Hearing Loss , Nutritional Status , Diet , Hearing Loss/etiology , Hearing Loss/prevention & control , Humans , Vitamin A , Vitamins
14.
Rev. colomb. reumatol ; 26(3): 216-219, jul.-set. 2019. tab, graf
Article in Spanish | LILACS | ID: biblio-1126339

ABSTRACT

Resumen La granulomatosis con poliangeítis (GPA) es una vasculitis de pequeno y mediano calibre caracterizada por la formación de granulomas e inflamación necrosante con predilección de las vías respiratorias y los glomérulos. Se reporta el caso de una adolescente de 14 an os que comienza con hipoacusia y lesiones cutáneas; sinusitis, epiescleritis, PR3-ANCA positivo y biopsia de piel con infiltrado neutrofílico y necrosis. La GPA puede presentar manifestaciones otológicas y dermatológicas como signo inicial, es importante tomarlo en consideración en el diagnóstico diferencial.


Abstract Granulomatosis with polyangiitis is a small- and medium-sized vasculitis. It is characterised by formation of granulomas and necrotising inflammation with a predilection for the respiratory tract and glomeruli. The case is presented of a 14-year-old female debuting with hypoacusis, skin lesions, sinusitis; episcleritis, anti-PR3 ANCA positivity and histological findings from the skin lesions with neutrophilic infiltration, necrosis and fibrin. Granulomatosis with polyangiitis can present otological and skin manifestations as initial signs, and it is important to take the differential diagnosis into consideration.


Subject(s)
Humans , Female , Adolescent , Granulomatosis with Polyangiitis , Hearing Loss , Skin Manifestations , Vasculitis, Leukocytoclastic, Cutaneous , Diagnosis, Differential
15.
Clin Cosmet Investig Dermatol ; 12: 445-450, 2019.
Article in English | MEDLINE | ID: mdl-31296994

ABSTRACT

Background: Vitiligo is an acquired disorder characterized by depigmented macules and patches that result from a progressive loss of functional melanocytes. During embryogenesis, precursor cells of melanocytes (melanoblasts) migrate not only to the epidermis and hair follicles but also to the leptomeninges, uveal tract of the eye, and inner ear. Thus, it has been proposed that these organs may be involved in vitiligo, as well. Objective: This study was designed to evaluate the frequency and characteristics of hearing loss by means of audiometry and  distortion  product otoaucostic emission (DPOAE) in patients with vitiligo. Methods: Fifty-three patients with vitiligo and 52 age- and sex-matched healthy subjects were enrolled in this case-control study. After a complete otological examination, comprehensive audiological evaluations including pure tone audiometry (PTA) and DPOAE were performed for all participants and the results were compared between the two groups. Results: Neither PTA nor DPOAE showed significant difference between the two groups in any of the evaluated frequencies (0.75-8 KHz). Furthermore, in patient group, there was no association between PTA/DPOAE and age, gender, duration of the disease, presence of halo nevus, type of vitiligo, extent of involvement, and positive family history of vitiligo. Conclusion: Vitiligo patients have normal hearing status.

16.
Metab Brain Dis ; 34(4): 1023-1027, 2019 08.
Article in English | MEDLINE | ID: mdl-31152339

ABSTRACT

OPA1 variants most frequently manifest phenotypically with pure autosomal dominant optic atrophy (ADOA) or with ADOA plus. The most frequent abnormalities in ADOA plus in addition to the optic nerve affection include hypoacusis, migraine, myopathy, and neuropathy. Hypertelorism and atrophy of the acoustic nerve have not been reported. The patient is a 48yo Caucasian female with slowly progressive, visual impairment since childhood, bilateral hypoacusis since age 10y, and classical migraine since age 20y. The family history was positive for diabetes (father, mother) and visual impairment (daughter). Clinical examination revealed hypertelorism, visual impairment, hypoacusis, tinnitus, weakness for elbow flexion and finger straddling, and generally reduced tendon reflexes. MRI of the cerebrum was non-informative but hypoplasia of the acoustic nerve bilaterally was described. Visually-evoked potentials revealed markedly prolonged P100-latencies bilaterally. Acoustically-evoked potentials were distorted with poor reproducibility and prolonged latencies. Muscle biopsy revealed reduced activities of complexes I, II, and IV. Genetic work-up revealed the novel variant c.1463G>C in the OPA1 gene. This case provides novel information regarding the genotype of ADOA plus. The novel OPA1 variant c.1463G>C not only manifests with visual impairment, hypoacusis, migraine, and myopathy, but also with hypertelorisms and acoustic nerve atrophy.


Subject(s)
Evoked Potentials, Auditory/physiology , GTP Phosphohydrolases/genetics , Mutation , Optic Atrophy, Autosomal Dominant/genetics , DNA Mutational Analysis , Female , Genotype , Humans , Middle Aged , Pedigree , Phenotype
17.
Eur J Med Genet ; 62(3): 182-185, 2019 Mar.
Article in English | MEDLINE | ID: mdl-30006058

ABSTRACT

PRMT7 encodes for an arginine methyltransferase that methylates arginine residues on various protein substrates and has been shown to play a role in various developmental processes. Mutations in PRMT7 have been recently shown to be implicated in a phenotype with intellectual disability, short stature and brachydactyly, and considered to be a phenocopy of pseudohypoparathyroidism. We report a patient with short stature, psychomotor delay, hearing loss and brachydactyly, for whom whole exome sequencing detected two mutations in PRMT7 and parental segregation studies detected biallelic mutation inheritance. Few patients with biallelic PRMT7 mutations have been reported so far in the literature. We report a new patient and review all reported cases to date to delineate the clinical manifestations that may help in diagnosis this disorder, known as Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures syndrome, allowing appropriate management and genetic counselling.


Subject(s)
Brachydactyly/genetics , Dwarfism/genetics , Intellectual Disability/genetics , Loss of Function Mutation , Phenotype , Protein-Arginine N-Methyltransferases/genetics , Brachydactyly/pathology , Dwarfism/pathology , Humans , Infant , Intellectual Disability/pathology , Male , Syndrome
18.
Oman Med J ; 33(5): 437-440, 2018 Sep.
Article in English | MEDLINE | ID: mdl-30210725

ABSTRACT

Maternally inherited diabetes and deafness (MIDD) is not only a disorder of the pancreas and ears but a multisystem mitochondrial disorder syndrome. Hypogonadism, however, has not been reported as a phenotypic feature of MIDD. We report a single case of a patient with MIDD which manifested clinically at 41 years old. In addition to diabetes and deafness, he manifested with seizures, ataxia, myopathy, and hypogonadism. We used established methods for the routine workup of this patient. MIDD is indeed a multisystem condition. A previously undescribed phenotypic feature of MIDD may be hypogonadism.

19.
Adv Exp Med Biol ; 1040: 23-27, 2018.
Article in English | MEDLINE | ID: mdl-28889233

ABSTRACT

A 60-year-old woman, otherwise in a good health condition, was first admitted to the hospital with a year-long tingling sensations of the right half of the face, which gradually turned into severe neuralgia corresponding to maxillary (V2) and mandibular (V3) branches of the right trigeminal nerve. MRI scans of the head revealed an unusual hyperplastic or inflammatory changes along the brain base, cavernous sinus extending toward the pterygopalatine fossa, and lateral pterygoid on the right side. Meningioma was suspected and neuralgia was treated conservatively. About 2 years later, due to severe facial and eye pain, the patient underwent decompression of trigeminal nerve roots - Janetta's surgery. The following MRI scans revealed a tumor of cavernous sinus, arousing suspicion of malignancy. Histological specimens obtained after a biopsy and then partial transnasal tumor resection yielded a diagnosis of adenoid cystic carcinoma. The patient was treated with proton radiation therapy. The therapy caused burns in the oropharyngeal soft tissues extending from the oral cavity to the throat and esophagus. The additional adverse effect of the therapy was hypoacusis and a damage to the right cornea. A radiation-induced sinusitis appeared that required surgical intervention. The patient suffered a string of further complications, including pneumonia and a transient kidney failure. In the end, the patient survived. The adenoid carcinoma in the currently 64-year-old woman is visibly reduced, but she still suffers from the trigeminal neuralgia. The patient remains under constant laryngological outpatient care as she requires a periodic cleansing of nasal cavities and hypoacusis monitoring.


Subject(s)
Carcinoma, Adenoid Cystic/radiotherapy , Cavernous Sinus/pathology , Meningeal Neoplasms/radiotherapy , Proton Therapy/adverse effects , Radiation Injuries/etiology , Sinusitis/etiology , Trigeminal Neuralgia/etiology , Carcinoma, Adenoid Cystic/diagnostic imaging , Carcinoma, Adenoid Cystic/pathology , Cavernous Sinus/diagnostic imaging , Female , Hearing Loss/etiology , Humans , Magnetic Resonance Imaging , Meningeal Neoplasms/diagnostic imaging , Meningeal Neoplasms/pathology , Middle Aged , Oropharynx/injuries
20.
Brain Inj ; 31(10): 1396-1397, 2017.
Article in English | MEDLINE | ID: mdl-28627931

ABSTRACT

We herein report a unique case of a lateral pontine demyelinating lesion presenting with unilateral sensorineural hearing loss and paradoxical ipsilateral hyperacusis. The association of unilateral hearing loss and ipsilateral hyperacusis is a rare manifestation of a central nervous system lesion. The paradoxical combination of these symptoms strongly suggests pontine dysfunction and prompts urgent neurological evaluation.


Subject(s)
Demyelinating Diseases/diagnosis , Hearing Loss, Sensorineural/diagnosis , Hyperacusis/diagnosis , Pons/pathology , Adult , Demyelinating Diseases/diagnostic imaging , Demyelinating Diseases/pathology , Hearing Loss, Sensorineural/diagnostic imaging , Hearing Loss, Sensorineural/pathology , Humans , Hyperacusis/diagnostic imaging , Hyperacusis/pathology , Magnetic Resonance Imaging , Male , Pons/diagnostic imaging , Syndrome
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