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JAAD Case Reports Jun 2018
PubMed: 29984262
DOI: 10.1016/j.jdcr.2017.08.012 -
Skeletal Muscle Oct 2022Duchenne muscular dystrophy (DMD) is an X-linked muscle disease caused by a complete lack of dystrophin, which stabilizes the plasma membrane of myofibers. The orofacial...
BACKGROUND
Duchenne muscular dystrophy (DMD) is an X-linked muscle disease caused by a complete lack of dystrophin, which stabilizes the plasma membrane of myofibers. The orofacial function is affected in an advanced stage of DMD and this often leads to an eating disorder such as dysphagia. Dysphagia is caused by multiple etiologies including decreased mastication and swallowing. Therefore, preventing the functional declines of mastication and swallowing in DMD is important to improve the patient's quality of life. In the present study, using a rat model of DMD we generated previously, we performed analyses on the masseter and tongue muscles, both are required for proper eating function.
METHODS
Age-related changes of the masseter and tongue muscle of DMD rats were analyzed morphometrically, histologically, and immunohistochemically. Also, transcription of cellular senescent markers, and utrophin (Utrn), a functional analog of dystrophin, was examined.
RESULTS
The masseter muscle of DMD rats showed progressive dystrophic changes as observed in their hindlimb muscle, accompanied by increased transcription of p16 and p19. On the other hand, the tongue of DMD rats showed macroglossia due to hypertrophy of myofibers with less dystrophic changes. Proliferative activity was preserved in the satellite cells from the tongue muscle but was perturbed severely in those from the masseter muscle. While Utrn transcription was increased in the masseter muscle of DMD rats compared to WT rats, probably due to a compensatory mechanism, its level in the tongue muscle was comparable between WT and DMD rats and was similar to that in the masseter muscle of DMD rats.
CONCLUSIONS
Muscular dystrophy is less advanced in the tongue muscle compared to the masseter muscle in the DMD rat.
Topics: Mice; Rats; Animals; Dystrophin; Muscular Dystrophy, Duchenne; Utrophin; Mice, Inbred mdx; Macroglossia; Deglutition Disorders; Quality of Life; Muscle, Skeletal; Tongue
PubMed: 36258243
DOI: 10.1186/s13395-022-00307-7 -
Annals of Maxillofacial Surgery Jul 2013Pathological enlargement of tongue is caused by several conditions and diseases. In several instances, surgery remains the only viable option for complete cure.... (Review)
Review
Pathological enlargement of tongue is caused by several conditions and diseases. In several instances, surgery remains the only viable option for complete cure. Persistent bleeding, compromised neuro-motor-sensory functions during the postoperative period are the most common complaints encountered after macroglossia correction. The tongue is a muscular organ, whose complex neuroanatomy is being unraveled slowly. Various types of macroglossia resections in unique clinical situations have been proposed by several clinicians till date. There has never been unanimously accepted resection for the treatment of macroglossia. This review article attempts to preview the cosmetic and functional components for resection designs.
PubMed: 24205477
DOI: 10.4103/2231-0746.119230 -
Molecular Syndromology Jul 2016Silver-Russell syndrome (SRS) and Beckwith-Wiedemann syndrome (BWS) are 2 clinically opposite growth-affecting disorders belonging to the group of congenital imprinting... (Review)
Review
Silver-Russell syndrome (SRS) and Beckwith-Wiedemann syndrome (BWS) are 2 clinically opposite growth-affecting disorders belonging to the group of congenital imprinting disorders. The expression of both syndromes usually depends on the parental origin of the chromosome in which the imprinted genes reside. SRS is characterized by severe intrauterine and postnatal growth retardation with various additional clinical features such as hemihypertrophy, relative macrocephaly, fifth finger clinodactyly, and triangular facies. BWS is an overgrowth syndrome with many additional clinical features such as macroglossia, organomegaly, and an increased risk of childhood tumors. Both SRS and BWS are clinically and genetically heterogeneous, and for clinical diagnosis, different diagnostic scoring systems have been developed. Six diagnostic scoring systems for SRS and 4 for BWS have been previously published. However, neither syndrome has common consensus diagnostic criteria yet. Most cases of SRS and BWS are associated with opposite epigenetic or genetic abnormalities in the 11p15 chromosomal region leading to opposite imbalances in the expression of imprinted genes. SRS is also caused by maternal uniparental disomy 7, which is usually identified in 5-10% of the cases, and is therefore the first imprinting disorder that affects 2 different chromosomes. In this review, we describe in detail the clinical diagnostic criteria and scoring systems as well as molecular causes in both SRS and BWS.
PubMed: 27587987
DOI: 10.1159/000447413 -
Endocrinology, Diabetes & Metabolism... Jul 2021Acromegaly is a rare, chronic progressive disorder with characteristic clinical features caused by persistent hypersecretion of growth hormone (GH), mostly from a...
SUMMARY
Acromegaly is a rare, chronic progressive disorder with characteristic clinical features caused by persistent hypersecretion of growth hormone (GH), mostly from a pituitary adenoma (95%). Occasionally, ectopic production of GH or growth hormone-releasing hormone (GHRH) with resultant GH hypersecretion may lead to acromegaly. Sometimes localizing the source of GH hypersecretion may prove difficult. Rarely, acromegaly has been found in patients with an empty sella (ES) secondary to prior pituitary radiation and/or surgery. However, acromegaly in patients with primary empty sella (PES) is exceeding rarely and has only been described in a few cases. We describe a 47-year-old male who presented with overt features of acromegaly (macroglossia, prognathism, increased hand and feet size). Biochemically, both the serum GH (21.6 μg/L) and insulin-like growth factor 1 (635 μg/L) were elevated. In addition, there was a paradoxical elevation of GH following a 75 g oral glucose load. Pituitary MRI demonstrated an ES. In order to exclude an ectopic source of GH hypersecretion, further biochemical tests and imaging were done, which were unremarkable. Notably, increased uptake in the sella turcica on the 68Gallium DOTATATE PET/CT confirmed the ES as the likely source of GH secretion. As no overt lesion was noted, medical treatment (octreotide acetate) was initiated with a good clinical and biochemical response. At his 3 month follow-up, he reported an improvement in symptoms (fatigue and headache), however he still complained of low libido. Due to a persistently low testosterone level at follow-up, a long-acting testosterone was initiated. His GH level normalised, and IGF-1 has significantly reduced.
LEARNING POINTS
The commonest cause of acromegaly is due to GH hypersecretion from pituitary adenomas (95%). Acromegaly has rarely been found in patients with ES. It is important to exclude a past history suggestive of pituitary apoplexy. Extra-pituitary source of GH such as ectopic production of GHRH with resultant GH hypersecretion needs to be excluded. In such cases, since there is no resectable mass, medical therapy is the primary treatment option.
PubMed: 34253687
DOI: 10.1530/EDM-21-0049 -
Indian Pediatrics Dec 2003
Topics: Follow-Up Studies; Glossectomy; Humans; India; Infant; Macroglossia; Male; Risk Assessment; Treatment Outcome
PubMed: 14722375
DOI: No ID Found -
Clinical Case Reports Mar 2021"Shoulder pad" sign resulting from deposition of amyloid in the periarticular soft tissue is rare but it is pathognomonic for immunoglobulin amyloidosis (AL). Although...
"Shoulder pad" sign resulting from deposition of amyloid in the periarticular soft tissue is rare but it is pathognomonic for immunoglobulin amyloidosis (AL). Although the detection remains a challenge, it gives a strong clue leading to prompt diagnosis.
PubMed: 33768946
DOI: 10.1002/ccr3.3782 -
Indian Journal of Dental Research :... 2020Hemangiomas are the most common benign vascular tumours, often reported in very young. Though the head and neck regions have high predilection, intra-oral hemangiomas...
Hemangiomas are the most common benign vascular tumours, often reported in very young. Though the head and neck regions have high predilection, intra-oral hemangiomas (IH) are very rare. In spite of numerous treatment options, the IH are ideal candidates for surgical exoneration. The reasons for this are manifold. This manuscript intends to present a case of IH arising in the tongue along with subsequent macroglossia. The treatment and surgical strategy based on cardinal principles of macroglossia corrections are described. A note on the challenges associated with treatment is presented.
Topics: Hemangioma; Humans; Macroglossia; Tongue
PubMed: 33753673
DOI: 10.4103/ijdr.IJDR_950_20 -
Journal of Infection and Public Health Jan 2022SARS-CoV-2 infection can lead to a variety of clinical manifestations. The occurrence of tongue swelling has recently reported in severe cases of COVID-19, and...
SARS-CoV-2 infection can lead to a variety of clinical manifestations. The occurrence of tongue swelling has recently reported in severe cases of COVID-19, and angioedema has suggested as the causative mechanism. Several factors, such as genetic predisposing factor and angiotensin-converting enzyme inhibitors (ACEI) therapies, have proposed to induce angioedema, especially as concerns patients requiring ICU treatments. Nevertheless, the question is still debated and other causes not yet recognized should be considered. Here we present a case of macroglossia occurred in a patient deceased for COVID-19 disease, who had no family history of angioedema and did not receive ACEI as antihypertensive drug. Histological and immune-histochemical analysis revealed tongue muscle atrophy with infiltrating macrophages suggesting repair mechanisms, as seen in nerve injury recovery. These new pathological findings may open new fields of study on the pathogenesis of SARS-CoV-2.
Topics: Angioedema; Angiotensin-Converting Enzyme Inhibitors; COVID-19; Humans; Macroglossia
PubMed: 34764043
DOI: 10.1016/j.jiph.2021.10.026 -
Srpski Arhiv Za Celokupno Lekarstvo 2011In 1963 Beckwith presented a report on the first patient with extreme cytomegaly of adrenal cortex, hyperplasia of kidneys and pancreas and Leydig cell hyperplasia....
INTRODUCTION
In 1963 Beckwith presented a report on the first patient with extreme cytomegaly of adrenal cortex, hyperplasia of kidneys and pancreas and Leydig cell hyperplasia. Wiedemann completed description of the new syndrome by adding umbilical hernia and macroglossia. The diagnosis is made based on the clinical signs of omphalocele or some other umbilical deformity, macroglossia, congenital asymmetry, visceromegaly (liver, pancreas, and kidneys).
CASE OUTLINE
A 16-month-old male child was admitted for examination because of macroglossia. He underwent examination on several occasions by an endocrinologist due to recurrent hypoglycaemic crisis. The patient was observed by a paediatric neurophysicatrist for disorders of mental development. Hypoglycaemia, muscular hypotonia of the anterior abdominal wall with umbilical hernia and macroglossia were observed by clinical examination. Inratraoral examination revealed macroglossia with microstomia, suckling and swallowing difficulties, hypotonia of the perioral muscles with increased salivation. It was therefore decided to perform surgical reduction of the prominent tongue and develop good condition for nutrition, speech function and the development of orofacial system.
CONCLUSION
The diagnosis of macroglossia is based on subjective clinical criteria such as the morphology and amount of protrusion of the tongue, difficulty in articulating sounds, breathing, and hypersalivation. Some authors have suggested that the tongue size may be analyzed radiographically with a cephalogram. Treatment of macroglossia is controversial because of the absence of objective clinical criteria.
Topics: Beckwith-Wiedemann Syndrome; Humans; Infant; Macroglossia; Male
PubMed: 21858977
DOI: 10.2298/sarh1106366k