ABSTRACT
OBJECTIVE: To optimize the current diagnostic and treatment procedures for patients with bilateral vestibulopathy (BV), this study aimed to determine the complete spectrum of symptoms associated with BV. METHOD: A prospective mixed-method study design was used. Qualitative data were collected by performing semi-structured interviews about symptoms, context, and behavior. The interviews were recorded and transcribed until no new information was obtained. Transcriptions were analyzed in consensus by two independent researchers. In comparison to the qualitative results, quantitative data were collected using the Dizziness Handicap Inventory (DHI), Hospital Anxiety and Depression Scale (HADS) and a health-related quality of life questionnaire (EQ-5D-5L). RESULTS: Eighteen interviews were transcribed. Reported symptoms were divided into fourteen physical symptoms, four cognitive symptoms, and six emotions. Symptoms increased in many situations, such as darkness (100%), uneven ground (61%), cycling (94%) or driving a car (56%). These symptoms associated with BV often resulted in behavioral changes: activities were performed more slowly, with greater attention, or were avoided. The DHI showed a mean score of severe handicap (54.67). The HADS questionnaire showed on average normal results (anxiety = 7.67, depression = 6.22). The EQ-5D-5L demonstrated a mean index value of 0.680, which is lower compared to the Dutch age-adjusted reference 0.839 (60-70 years). CONCLUSION: BV frequently leads to physical, cognitive, and emotional complaints, which often results in a diminished quality of life. Importantly, this wide range of symptoms is currently underrated in literature and should be taken into consideration during the development of candidacy criteria and/or outcome measures for therapeutic interventions such as the vestibular implant.
Subject(s)
Bilateral Vestibulopathy , Adolescent , Adult , Aged , Child , Child, Preschool , Dizziness , Humans , Infant , Middle Aged , Prospective Studies , Quality of Life , Vertigo , Young AdultSubject(s)
Microalgae/metabolism , Oils/metabolism , Filtration , Membranes, Artificial , Microalgae/chemistry , Oils/chemistry , Pressure , Time Factors , Water/chemistryABSTRACT
A homozygous mutation in the flavoprotein (Fp) gene associated with complex II deficiency was demonstrated in a patient with consanguineous parents. She succumbed at 5(1/2) months of age following a respiratory infection. The c1664G-->A transition detected, predicted the substitution of the small uncharged glycine at position 555 by glutamic acid. Her clinical course was at variance with the Leigh syndrome in three previously reported patients due to Fp gene mutations. In this proband, CRM for flavoprotein as well as iron-containing protein (Ip) was decreased, CRM for the entire complex II (130 kDa) being reduced even more. This observation prompts speculation of a labile interaction between Ip and Fp polypeptides and of a key role of the amino acid at position 555 in the interacting domain.
Subject(s)
Cell Nucleus/metabolism , Electron Transport/genetics , Flavoproteins/genetics , Glutamine/chemistry , Glycine/chemistry , Homozygote , Mutation , Amino Acids/chemistry , Cardiomegaly/genetics , Electrophoresis, Polyacrylamide Gel , Female , Fibroblasts/metabolism , Glutamic Acid/genetics , Glycine/genetics , Humans , Infant , Iron/chemistry , Models, Molecular , Muscle, Skeletal/metabolism , Oxygen/metabolism , Peptides/chemistry , Phosphorylation , Protein Structure, TertiaryABSTRACT
The results of the clinical and radiographic study of 7 patients support the view of a unimodal and rather narrow phenotypic spectrum in the Brachmann-de Lange syndrome (BDLS) and reject the existence of a "classic" type of patient and a "mild phenotype" without upper limb defects who survive with moderate to severe mental retardation. Similarity among all patients is greater than their phenotypic differences. Strict clinical definition of the syndrome warrants easier access to the still unknown cause, most probably a single gene mutation with autosomal dominant inheritance.
Subject(s)
De Lange Syndrome/pathology , Arm/abnormalities , Body Constitution , Child , Child, Preschool , De Lange Syndrome/diagnosis , De Lange Syndrome/genetics , Face/abnormalities , Female , Humans , Intellectual Disability/genetics , Male , PhenotypeABSTRACT
Fetal intestinal perforation causes a sterile inflammatory reaction of the peritoneum called meconium peritonitis. Twelve patients studied in the perinatal period serve to describe the classical fetal and neonatal signs and symptoms, the iconographical findings, treatment and prognosis. All but one infant, with a meconium pseudocyst, presented with the fibro-adhesive variety. Two were caused by cystic fibrosis, two by organic obstruction, one by fetal appendicitis and another two by ischemic necrosis of part of the ileum. In one of the latter two, the probable mechanism was feto-fetal embolisation following the in utero death of a co-twin. One idiopathic perforation, diagnosed in a preterm infant, healed spontaneously. The neonatal mortality rate was 18%. Primary enteric anastomosis was feasible in 3, Bishop-Koop anastomosis in 2 and an intestinal stoma in two others. Apart from the two survivors with cystic fibrosis, seven have no late gastro-intestinal sequelae.
