Wrodzony niedobór biotynidazy o późnym początku – opis przypadku

2018 ◽  
Vol 22 (2) ◽  
Author(s):  
Milena Lubowicz ◽  
Magdalena Łukasik ◽  
Katarzyna Dylewska ◽  
Andrzej Kurylak
Keyword(s):  
Hearing Loss ◽  
Initial Phase ◽  
Laboratory Tests ◽  
Clinical Symptoms ◽  
Late Onset ◽  
Carrier State ◽  
Biotinidase Deficiency ◽  
Psychomotor Development ◽  
Chromosome 3 ◽  
Biotinidase Activity

Biotinidase deficiency is a genetically conditioned congenital disorder of biotin metabolism. The disease is caused by mutations in the BTD-3p25 gene, located on the short strand of chromosome 3. The BTD gene conditions proper biotinidase synthesis. So far, approximately 150 mutations of this gene have been identified. The incidence proportion is one case per 61 000 births, and the carrier state – one case per 120 births. Biotin (vit. H, B7) is essential in numerous metabolic processes. The initial phase of the disease can be acute, chronic including exacerbations/remissions, progressive, and the symptoms can appear at any age. The diagnosis of patients with late-onset disease is particularly difficult, since the symptoms suggest disorders of different nature, especially neurologic. The diagnosis is based on the analysis of clinical symptoms and laboratory tests, including biotinidase activity. The supplementation of biotin is the treatment of choice. It leads to rapid resolution of symptoms and can protect against permanent consequences of the disease such as optic atrophy, hearing loss or retarded psychomotor development.

scholarly journals Distinct epigenetic signatures between adult-onset and late-onset depression

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Hirotaka Yamagata ◽  
Hiroyuki Ogihara ◽  
Koji Matsuo ◽  
Shusaku Uchida ◽  
Ayumi Kobayashi ◽  
...  
Keyword(s):  
Dna Methylation ◽  
Bisulfite Sequencing ◽  
Clinical Symptoms ◽  
Late Onset ◽  
Adult Onset ◽  
Blood Biomarkers ◽  
Major Depressive ◽  
Genome Wide ◽  
Healthy Control ◽  
Epigenetic Signatures

AbstractThe heterogeneity of major depressive disorder (MDD) is attributed to the fact that diagnostic criteria (e.g., DSM-5) are only based on clinical symptoms. The discovery of blood biomarkers has the potential to change the diagnosis of MDD. The purpose of this study was to identify blood biomarkers of DNA methylation by strategically subtyping patients with MDD by onset age. We analyzed genome-wide DNA methylation of patients with adult-onset depression (AOD; age ≥ 50 years, age at depression onset < 50 years; N = 10) and late-onset depression (LOD; age ≥ 50 years, age at depression onset ≥ 50 years; N = 25) in comparison to that of 30 healthy subjects. The methylation profile of the AOD group was not only different from that of the LOD group but also more homogenous. Six identified methylation CpG sites were validated by pyrosequencing and amplicon bisulfite sequencing as potential markers for AOD in a second set of independent patients with AOD and healthy control subjects (N = 11). The combination of three specific methylation markers achieved the highest accuracy (sensitivity, 64%; specificity, 91%; accuracy, 77%). Taken together, our findings suggest that DNA methylation markers are more suitable for AOD than for LOD patients.

scholarly journals A case report of unilateral conductive hearing loss as a consequence of malignant sinonasal melanoma: the importance of completing a full clinical history and examination

2020 ◽  
Vol 36 (1) ◽  
Author(s):  
Victoria Blackabey ◽  
Olivia Kenyon ◽  
Rishi Talwar
Keyword(s):  
Hearing Loss ◽  
Case Report ◽  
Clinical Symptoms ◽  
Symptomatic Relief ◽  
Clinical History ◽  
Histological Diagnosis ◽  
Unusual Presentation ◽  
Sinus Surgery ◽  
Cancer Management ◽  
The Right

Abstract Background Sinonasal melanoma is a rare head and neck tumour. It is associated with a poor prognosis, high rates of loco-regional recurrence and distant metastasis. Treatment of the disease is therefore complicated, and because of limited data regarding the cancer, management is frequently tailored to the individual patient. We describe an unusual presentation of sinonasal melanoma with relevant histology, radiology and clinical photography. Case presentation The case report describes the presentation of a 64-year-old man to the Ear, Nose and Throat department with progressive right-sided hearing loss. A thorough history highlighted other clinical symptoms including unilateral nasal obstruction and epistaxis. Clinical examination showed a right middle ear effusion with a polypoidal lesion in the right nasal cavity. Relevant imaging demonstrated a destructive process that required further assessment. An endoscopic sinus procedure was performed to obtain histological diagnosis as well as providing symptomatic relief. Histology confirmed malignant mucosal melanoma. The patient underwent maxillectomy and orbital exenteration (due to further progression of disease) at a tertiary centre with a plan for subsequent immunotherapy. This however has been delayed due to further surgery to excise a metastatic lesion to the right femur. Conclusions This case report highlights the importance of a thorough clinical history and examination. An unusual presentation of a sinonasal tumour can easily be missed leading to a significant delay in treatment. The case report also describes the use of functional endoscopic sinus surgery in order to obtain histological diagnosis and to debulk the tumour, providing symptomatic relief. The current literature regarding management will be discussed as well as current developments guiding future treatment.

scholarly journals Rare Variants in Autophagy and Non-Autophagy Genes in Late-Onset Pompe Disease: Suggestions of Their Disease-Modifying Role in Two Italian Families

2021 ◽  
Vol 22 (7) ◽  
pp. 3625
Author(s):  
Filomena Napolitano ◽  
Giorgia Bruno ◽  
Chiara Terracciano ◽  
Giuseppina Franzese ◽  
Nicole Piera Palomba ◽  
...  
Keyword(s):  
Pompe Disease ◽  
Rare Variants ◽  
Clinical Symptoms ◽  
Late Onset ◽  
Respiratory Muscles ◽  
Autosomal Recessive Disorder ◽  
Compound Heterozygous ◽  
Enzyme Replacement ◽  
Whole Exome ◽  
Clinical Pictures

Pompe disease is an autosomal recessive disorder caused by a deficiency in the enzyme acid alpha-glucosidase. The late-onset form of Pompe disease (LOPD) is characterized by a slowly progressing proximal muscle weakness, often involving respiratory muscles. In LOPD, the levels of GAA enzyme activity and the severity of the clinical pictures may be highly variable among individuals, even in those who harbour the same combination of GAA mutations. The result is an unpredictable genotype–phenotype correlation. The purpose of this study was to identify the genetic factors responsible for the progression, severity and drug response in LOPD. We report here on a detailed clinical, morphological and genetic study, including a whole exome sequencing (WES) analysis of 11 adult LOPD siblings belonging to two Italian families carrying compound heterozygous GAA mutations. We disclosed a heterogeneous pattern of myopathic impairment, associated, among others, with cardiac defects, intracranial vessels abnormality, osteoporosis, vitamin D deficiency, obesity and adverse response to enzyme replacement therapy (ERT). We identified deleterious variants in the genes involved in autophagy, immunity and bone metabolism, which contributed to the severity of the clinical symptoms observed in the LOPD patients. This study emphasizes the multisystem nature of LOPD and highlights the polygenic nature of the complex phenotype disclosed in these patients.

scholarly journals Connexin26 (GJB2) deficiency reduces active cochlear amplification leading to late-onset hearing loss

Neuroscience ◽  
2015 ◽  
Vol 284 ◽  
pp. 719-729 ◽  
Author(s):  
Y. Zhu ◽  
J. Chen ◽  
C. Liang ◽  
L. Zong ◽  
J. Chen ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Late Onset ◽  
Cochlear Amplification

Predicting progression in the late onset frontal lobe syndrome

2018 ◽  
Vol 31 (5) ◽  
pp. 743-748 ◽  
Author(s):  
Flora T. Gossink ◽  
Everard Vijverberg ◽  
Welmoed Krudop ◽  
Philip Scheltens ◽  
Max L. Stek ◽  
...  
Keyword(s):  
Frontal Lobe ◽  
Clinical Symptoms ◽  
Late Onset ◽  
Clinical Syndrome ◽  
Clinical Markers ◽  
Neuropsychological Profile ◽  
Stereotypical Behavior ◽  
Executive Deficits ◽  
Magnetic Resonance Imaging Mri ◽  
Frontal Lobe Syndrome

ABSTRACTA late onset frontal lobe syndrome (LOF) refers to a clinical syndrome with apathy, disinhibition, or stereotypical behavior arising in middle or late adulthood. Diagnostics are challenging, and both clinicians and patients need reliable predictors of progression to improve clinical guidance. In this longitudinal multicenter and genetically screened prospective study, 137 LOF patients with frontal behavior (FBI score≥11) and/or stereotypical behavior (SRI≥10) were included. Progression was defined as institutionalization, death, or progression of frontal or temporal atrophy at magnetic resonance imaging (MRI) after two years of follow up. Absence of progression at MRI in addition to stable or improved Mini Mental State Examination and Frontal Assessment Battery scores after two years was indicative for non-progression. The presence of stereotypy and a neuropsychological profile with executive deficits at baseline were found to be predictive for progression, while a history and family history with psychiatric disorders were predictors for non-progression. The combination of these clinical markers had a predictive value of 80.4% (p < 0.05). In patients presenting with late onset behavioral symptoms, an appraisal of the rate of deterioration can be made by detailed mapping of clinical symptoms. Distinction of progressive discourses from non-progressive or treatable conditions is to be gained.

scholarly journals Envenoming caused by a Portuguese man-o'-war (Physalia physalis) manifesting as purpuric papules

2012 ◽  
Vol 87 (4) ◽  
pp. 644-645 ◽  
Author(s):  
Yamin José Risk ◽  
João Luiz Costa Cardoso ◽  
Vidal Haddad Junior
Keyword(s):  
Initial Phase ◽  
Late Onset ◽  
Anomalous Reaction ◽  
Physalia Physalis

We report the case of a 42-year old woman who was envenomed by a Portuguese man-o'-war (Physalia physalis). She presented an anomalous reaction manifested by purpuric papules that appeared after the initial phase of envenoming (around 24 hours later), when linear erythematous and edematous papules were observed. Late-onset reactions in accidents involving cnidarians commonly include chronic eruptions and local pigmentation.

scholarly journals Streptococcus suis infection: Clinical manifestations

2005 ◽  
Vol 58 (5-6) ◽  
pp. 236-239 ◽  
Author(s):  
Julijana Dragojlovic ◽  
Branko Milosevic ◽  
Neda Sasic ◽  
Miomir Pelemis ◽  
Milan Sasic
Keyword(s):  
Hearing Loss ◽  
Bacterial Meningitis ◽  
Clinical Symptoms ◽  
Clinical Manifestations ◽  
Sensorineural Deafness ◽  
Streptococcus Suis ◽  
The Body ◽  
Effective Prevention ◽  
Sporadic Disease ◽  
Male Patients

Introduction Streptococcus suis is a bacterium causing a disease in pigs and rarely in humans. This zoonosis is mostly found as a sporadic disease in individuals that were in contact with the affected or infected pigs: farmers, veterinarians and workers engaged in fresh pork processing. It is assumed that the bacterium enters the body through a cut abrasion in the skin. Initially, the condition resembles a flu, followed by signs of bacteriemia and sepsis. The most frequent clinical manifestation of Streptococcus suis infection is meningitis, leading to hearing loss in over 75% of patients, and subsequent arthritis, endophtalmitis, endocarditis and pneumonia. Toxic shock syndrome with hemorhagic manifestations rarely develops. Material and methods This study included five male patients aged 22 to 63 years treated in the Intensive Care Unit of the Institute of Infectious and Tropical Diseases in Belgrade, due to Streptococcus suis infection. The aim of this study was to point to the existence of this bacteria in our environment, to describe clinical manifestations of the disease and to point out the importance of its prevention. Results All patients had epidemiological evidence of being in contact with pork meat. There were no data about diseased pigs. The estimated incubation period was 4 to 8 days. All patients had meningeal signs. Clinical symptoms included shivering, fever, vomiting, headache, malaise, vertigo and tinitus. Three patients presented with alerterd level of awareness. Four patients developed very severe bilateral hearing impairemnt, whereas one endophtalmtis and one developed endocarditis. The cerebrospinal fluid (CSF) was opalescent in four patients, and only one patient presented with clear CSF. CSF examination showed typical changes characeteristic for bacterial meningitis. Streptoccocus suis was isolated in CSF in all patients, and in one patient the bacteria was isolated in blood as well. All patients underwent treatment with II and III generation cephalosporins and one with one aminoglycosides. All patients were cured, but 4 of them developed sequelae like permanent sensorineural deafness and mild ataxia. Conclusions Streptococcus suis infection is present as a zoonosis in pigs, while humans are contracted occasionally, most frequently related to occupational risk. In cases with bacterial meningitis with sepsis and hearing loss, Streptococcus suis infections must be suspected. Effective prevention requires collaboration between epidemiologists, veterinarians and human medicine physicians. .

Reversible hearing loss associated with a malignant pineal germ cell tumor

2003 ◽  
Vol 99 (3) ◽  
pp. 587-590 ◽  
Author(s):  
Nathalie Gaspar ◽  
Arnauld Verschuur ◽  
Ghislaine Mercier ◽  
Dominique Couanet ◽  
Christian Sainte-Rose ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Germ Cell ◽  
Germ Cell Tumor ◽  
Clinical Symptoms ◽  
Tumor Regression ◽  
Cell Tumor ◽  
Direct Compression ◽  
Pineal Tumors ◽  
Content Type ◽  
Adjacent Structures

✓ In patients with pineal tumors, clinical symptoms are due to direct compression of adjacent structures. The most common signs include increased intracranial pressure (80%) caused by obstruction of the sylvian aqueduct, and Parinaud syndrome (50%) caused by direct compression of the superior colliculi. Hearing loss is rare in patients with tumors in this location. The authors report on the case of a 12-year-old boy in whom a malignant pineal germ cell tumor was found together with the unusual occurrence of severe hearing loss due to direct bilateral compression of the inferior colliculi. This condition resolved completely after tumor regression.

Concurrent Hearing and Genetic Screening of 18 001 Neonates with Hearing Diagnose in Nantong, China

2021 ◽  
Author(s):  
Jianhua Chen ◽  
Qingwen Zhu ◽  
Jingyu Li ◽  
Jing Wang ◽  
Wenjun Bian ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Early Detection ◽  
Genetic Screening ◽  
Late Onset ◽  
Gene Mutations ◽  
Hearing Screening ◽  
12S Rrna ◽  
Drug Induced ◽  
Dna Test ◽  
Deafness Gene

Abstract Objectives: Concurrent hearing and genetic screening of newborns is expected to play an important role in the early detection and diagnosis of congenital deafness, which triggers an intervention, as well as in predicting late-onset and progressive hearing loss and identifying individuals who are at risk of drug-induced hearing loss (HL).Methods: A Deafness Gene Variant Detection Array Kit covering fifteen variants in four genes was used to screen for deafness genes in 18001 infants.Results: A total of 108 neonates did not pass the second hearing screening. In addition, 912 (5.07%) screened positive for deafness-associated variants, including 78 (0.43%) genetically referred and 834 (4.63%) genetic deafness-associated variant carriers. Of the 912 screened positive cases, 880 passed the hearing screening, and 32 failed. A total of 62 (0.34%) cases carried the mtDNA 12S rRNA variants. A total of 108 cases did not pass the hearing screening and underwent a hearing diagnostic examination. An expanded DNA test identified 17 patients who possessed deafness gene mutations, increasing the detection rate to 5.16%.Conclusion: Early detection, diagnosis, and interventions are necessary for newborns who are susceptible to deafness. A good strategy is to use a small panel to quickly screen all subjects and then apply an extended panel to study the cause of deafness in affected patients.

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