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[The results of a 5-year clinical and epidemiological study of the National Program "Chronic tonsillitis"].
Vestn Otorinolaringol
December 2024
St. Petersburg Research Institute of Ear, Throat, Nose and Speech, St. Petersburg, Russia.
To study the epidemiological characteristics of chronic tonsillitis (ChT), the need for patients to undergo conservative and surgical treatment, and a comparative assessment of the effectiveness of conservative treatment of patients with chronic tonsillitis using Tonsilotren as monotherapy and in complex treatment. The study involved 999 otorhinolaryngologists from the outpatient network of 20 major Russian cities. The data of 74125 patients diagnosed with ChT were analyzed.
View Article and Find Full Text PDFExome sequence analysis identifies a homozygous, pathogenic, frameshift variant in the gene underlying clinical variant of α-mannosidosis.
Front Genet
August 2024
Department of Basic Medical Sciences, College of Medicine, Taibah University, Madinah, Saudi Arabia.
Background: α-mannosidosis (MAN) is a rare genetic condition that segregates in an autosomal recessive manner. Lack of lysosomal alpha-mannosidase is the underlying cause of the disease. Symptoms of the disease gradually worsen with the age.
View Article and Find Full Text PDFCombined generalized and focal epilepsy with reflex features in Adaptor protein complex 4-associated hereditary spastic paraplegias: A cohort observational study.
Seizure
October 2024
Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Pisa, Italy; Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.
Article Synopsis
- Patients with AP-4 deficiency have developmental delays and seizures that start early in life, along with other issues like trouble with speech and movement.
- The study looked at how these seizures happen and how patients respond to treatment, finding various types of seizures and some unique brain wave patterns.
- Overall, while epilepsy can develop at different ages, many patients had a good outlook, and they didn’t seem to be resistant to medications.
Perplexity of utterances in untreated first-episode psychosis: an ultra-high field MRI dynamic causal modelling study of the semantic network.
J Psychiatry Neurosci
August 2024
From CIDCL, Escuela de Fonoaudiología, Universidad de Valparaíso, Valparaíso, Chile (Alonso-Sánchez); the Department of Translation & Language Sciences, Universitat Pompeu Fabra, Barcelona, Spain (Hinzen, He); the Intitut Català de Recerca i Estudis Avançats (ICREA), Barcelona, Spain (Hinzen); the Robarts Research Institute, Schulich School of Medicine and Dentistry, Western University, London, Ont. (Gati, Palaniyappan); the Department of Medical Biophysics, Schulich School of Medicine and Dentistry, Western University, London, Ont. (Gati, Palaniyappan); the Douglas Mental Health University Institute, Department of Psychiatry, McGill University, Montréal, Que (Palaniyappan)
Background: Psychosis involves a distortion of thought content, which is partly reflected in anomalous ways in which words are semantically connected into utterances in speech. We sought to explore how these linguistic anomalies are realized through putative circuit-level abnormalities in the brain's semantic network.
Methods: Using a computational large-language model, Bidirectional Encoder Representations from Transformers (BERT), we quantified the contextual expectedness of a given word sequence (perplexity) across 180 samples obtained from descriptions of 3 pictures by patients with first-episode schizophrenia (FES) and controls matched for age, parental social status, and sex, scanned with 7 T ultra-high field functional magnetic resonance imaging (fMRI).
Language in interaction: turn-taking patterns in conversations involving individuals with schizophrenia.
Psychiatry Res
September 2024
Psychiatric Unit, Department of Medicine and Surgery, University of Parma, Parma, Italy; Department of Mental Health, Local Health Service, Parma, Italy.
Article Synopsis
- Individuals with schizophrenia face challenges in communication, particularly in managing conversations compared to control subjects.
- A study analyzed dialogues between individuals with schizophrenia and medical doctors, revealing distinct turn-taking patterns, such as increased overlap and mutual silence during interactions.
- These patterns indicate that communication dynamics in schizophrenia are unique, with mutual silence linked to the severity of negative symptoms, but not to their subjective experiences.
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