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Animals : An Open Access Journal From... Sep 2020Arthrogryposis and macroglossia are congenital pathologies known in several cattle breeds, including Piemontese. As variations in single genes were identified as...
Arthrogryposis and macroglossia are congenital pathologies known in several cattle breeds, including Piemontese. As variations in single genes were identified as responsible for arthrogryposis in some breeds, we decided: (i) to test the hypothesis of a similar genetic determinism for arthrogryposis in the Piemontese breed by genotyping affected and healthy animals with a high-density chip and applying genome-wide association study (GWAS), and canonical discriminant analysis (CDA) procedures, and (ii) to investigate with the same approach the genetic background of macroglossia, for which no genetic studies exist so far. The study included 125 animals (63 healthy, 30 with arthrogryposis, and 32 with macroglossia). Differently from what reported for other breeds, the analysis did not evidence a single strong association with the two pathologies. Rather, 23 significant markers on different chromosomes were found (7 associated to arthrogryposis, 11 to macroglossia, and 5 to both pathologies), suggesting a multifactorial genetic mechanism underlying both diseases in the Piemontese breed. In the 100-kb interval surrounding the significant SNPs, 20 and 26 genes were identified for arthrogryposis and macroglossia, respectively, with 12 genes in common to both diseases. For some genes (, , , and ), a possible role in the pathologies can be hypothesized, being involved in processes related to muscular or nervous tissue development. The real involvement of these genes needs to be further investigated and validated.
PubMed: 32987629
DOI: 10.3390/ani10101732 -
BMJ (Clinical Research Ed.) Nov 1994
Topics: Child; Glossectomy; Humans; Macroglossia; Mental Disorders
PubMed: 7819836
DOI: 10.1136/bmj.309.6966.1386 -
Cureus Aug 2018Macroglossia is an uncommon condition that causes cosmetic and functional disabilities. We present a case of a 67-year-old patient with the past medical history of...
Macroglossia is an uncommon condition that causes cosmetic and functional disabilities. We present a case of a 67-year-old patient with the past medical history of vitamin B12 deficiencies who presented with macroglossia and was found to have amyloidosis. She had an enlarged tongue with multiple ulcerations secondary to traumatic injury from dentation along with difficulty swallowing. Laboratory workup was unremarkable apart from elevated C reactive protein (CRP) and low complement 3 (C3) levels. On the second day of admission she had gastrointestinal bleed; computed tomography (CT) scan of the abdomen with oral contrast was performed which revealed nodular thickening of the stomach suspicious for gastric malignancy. Endoscopy was postponed as there was concern that macroglossia could comprise the airway. A biopsy of the tongue was performed and histological staining was positive suggestive of the amyloidosis. We discuss here the probable underlying causes of macroglossia and amyloidosis.
PubMed: 30364871
DOI: 10.7759/cureus.3185 -
Cancers Oct 2023Beckwith-Wiedemann syndrome (BWS) is a genetic imprinting disorder that most commonly presents as overgrowth, macroglossia, abdominal wall defects, lateralized...
Beckwith-Wiedemann syndrome (BWS) is a genetic imprinting disorder that most commonly presents as overgrowth, macroglossia, abdominal wall defects, lateralized overgrowth, and embryonal tumors [...].
PubMed: 37894306
DOI: 10.3390/cancers15204939 -
Clinical and Experimental Rheumatology Mar 2023Sporadic inclusion body myositis (IBM) is the most common acquired myopathy in those aged above 50. It is classically heralded by weakness in the long finger flexors and... (Review)
Review
OBJECTIVES
Sporadic inclusion body myositis (IBM) is the most common acquired myopathy in those aged above 50. It is classically heralded by weakness in the long finger flexors and quadriceps. The aim of this article is to describe five atypical cases of IBM, outlining two potential emerging clinical subsets of the disease.
METHODS
We reviewed relevant clinical documentation and pertinent investigations for five patients with IBM.
RESULTS
The first phenotype we describe is young-onset IBM in two patients who had symptoms since their early thirties. The literature supports that IBM can rarely present in this age range or younger. We describe a second phenotype in three middle-aged women who developed early bilateral facial weakness at presentation in tandem with dysphagia and bulbar impairment followed by respiratory failure requiring non-invasive ventilation (NIV). Within this group, two patients were noted to have macroglossia, another possible rare feature of IBM.
CONCLUSIONS
Despite the classical phenotype described within the literature IBM can present in a heterogenous fashion. It is important to recognise IBM in younger patients and investigate for specific associations. The described pattern of facial diplegia, severe dysphagia, bulbar dysfunction and respiratory failure in female IBM patients requires further characterisation. Patients with this clinical pattern may require more complex and supportive management. Macroglossia is a potentially under recognised feature of IBM. The presence of macroglossia in IBM warrants further study, as its presence may lead to unnecessary investigations and delay diagnosis.
Topics: Female; Humans; Myositis, Inclusion Body; Deglutition Disorders; Macroglossia; Phenotype
PubMed: 36861744
DOI: 10.55563/clinexprheumatol/jq7zxd -
Medicina Oral, Patologia Oral Y Cirugia... Jul 2023Amyloidosis is a disease characterized by the progressive deposition of abnormal proteins that can occur in any organ. In the oral cavity, the tongue is the most common...
BACKGROUND
Amyloidosis is a disease characterized by the progressive deposition of abnormal proteins that can occur in any organ. In the oral cavity, the tongue is the most common affected site, usually causing macroglossia. Biopsy is essential for the diagnosis and the occurrence of its systemic form is mandatory to be investigated. This systematic review evaluated the existing information in the literature on Amyloidosis in the oral cavity to allow a more comprehensive and updated analysis of its clinicopathological characteristics, as well as to explore the main forms of treatment and prognostic factors.
MATERIAL AND METHODS
Electronic searches were undertaken in five databases supplemented by manual scrutiny.
RESULTS
A total of 111 studies were included with 158 individuals.
CONCLUSIONS
The disease had a higher prevalence in women, the tongue was the most affected site, as well as the systemic form of the disease. The worst prognosis was for cases of systemic amyloidosis associated with multiple myeloma.
Topics: Humans; Female; Amyloidosis; Macroglossia; Multiple Myeloma; Tongue Diseases; Tongue
PubMed: 37330968
DOI: 10.4317/medoral.25761 -
Journal of Clinical Medicine Feb 2022Acromegaly is a chronic disease caused by an abnormal secretion of growth hormone (GH) by a pituitary adenoma, resulting in an increased circulating concentration of... (Review)
Review
Acromegaly is a chronic disease caused by an abnormal secretion of growth hormone (GH) by a pituitary adenoma, resulting in an increased circulating concentration of insulin-like growth factor 1 (IGF-1). The main characteristics are a slow progression of signs and symptoms, with multisystemic involvement, leading to acral overgrowth, progressive somatic changes, and a complex range of comorbidities. Most of these comorbidities can be controlled with treatment. The literature reveals that the most evident and early signs are those related to soft tissue thickening and skeletal growth, especially in the head and neck region. The authors reviewed the available literature on the clinical oro-dental features of acromegaly, selecting articles from PubMed and Google Scholar. The aim of this review was to summarize all the reported clinical oro-dental features of acromegalic patients. The most common facial dimorphisms involved the maxillo-facial district, with hypertrophy of the paranasal sinuses, thickening of the frontal bones, and protruding glabella, which may be associated with joint pain and clicks. Regarding the oro-dental signs, the most frequent are dental diastema (40-43%), mandibular overgrowth (22-24%), mandibular prognathism (20-22%), and macroglossia (54-58%). These signs of acromegaly can be significantly reduced with adequate treatment, which is more effective when initiated early. Increased awareness of acromegaly among dentists and maxillo-facial surgeons, along with the early identification of oro-facial changes, could lead to an earlier diagnosis and treatment, thereby improving patients' quality of life and prognosis.
PubMed: 35207363
DOI: 10.3390/jcm11041092 -
Pituitary Aug 2016Acromegaly is a rare, insidious disease resulting from the overproduction of growth hormone (GH) and insulin-like growth factor 1 (IGF-1), and is associated with a range... (Review)
Review
INTRODUCTION
Acromegaly is a rare, insidious disease resulting from the overproduction of growth hormone (GH) and insulin-like growth factor 1 (IGF-1), and is associated with a range of comorbidities. The extent of associated complications and mortality risk is related to length of exposure to the excess GH and IGF-1, thus early diagnosis and treatment is imperative. Unfortunately, acromegaly is often diagnosed late, when patients already have a wide range of comorbidities. The presence of comorbid conditions contributes significantly to patient morbidity/mortality and impaired quality of life.
METHODS
We conducted a retrospective literature review for information relating to the diagnosis of acromegaly, and its associated comorbidities using PubMed. The main aim of this review is to highlight the issues of comorbidities in acromegaly, and to reinforce the importance of early diagnosis and treatment.
FINDINGS AND CONCLUSIONS
Successful management of acromegaly goes beyond treating the disease itself, since many patients are diagnosed late in disease evolution, they present with a range of comorbid conditions, such as cardiovascular disease, diabetes, hypertension, and sleep apnea. It is important that patients are screened carefully at diagnosis (and thereafter), for common associated complications, and that biochemical control does not become the only treatment goal. Mortality and morbidities in acromegaly can be reduced successfully if patients are treated using a multimodal approach with comprehensive comorbidity management.
Topics: Adenoma; Cardiovascular Diseases; Carpal Tunnel Syndrome; Comorbidity; Diabetes Mellitus; Disease Management; Growth Hormone-Secreting Pituitary Adenoma; Headache; Heart Failure; Humans; Hypertension; Hypertrophy, Left Ventricular; Macroglossia; Osteoarthritis; Prognosis; Sleep Apnea Syndromes; Vision Disorders
PubMed: 27279011
DOI: 10.1007/s11102-016-0725-2 -
Journal of Medical Genetics Jul 1994
Review
Topics: Beckwith-Wiedemann Syndrome; Diagnosis, Differential; Humans; Macroglossia; Prenatal Diagnosis
PubMed: 7966193
DOI: 10.1136/jmg.31.7.560