Kickboxing a cardiomyopathy: mitochondrial sequencing provides answer for young athlete and her family

2021 ◽  
Vol 14 (1) ◽  
pp. e237592
Author(s):  
Elizabeth H Dineen ◽  
Ali Torkamani ◽  
Evan D Muse
Keyword(s):  
Hearing Loss ◽  
Differential Diagnosis ◽  
Gestational Diabetes ◽  
Ventricular Arrhythmia ◽  
Mitochondrial Gene ◽  
Management Strategies ◽  
Young Athlete ◽  
Mitochondrial Diseases ◽  
Beta Blockade ◽  
Her Family

Mitochondrial diseases are rare, often go undiagnosed and can lead to devastating cascades of multisystem organ dysfunction. This report of a young woman with hearing loss and gestational diabetes illustrates a novel presentation of a cardiomyopathy caused by a previously described mutation in a mitochondrial gene, MT-TL1. She initially had biventricular heart dysfunction and ventricular arrhythmia that ultimately recovered with beta blockade and time. She continues to participate in sport without decline. It is important to keep mitochondrial diseases in the differential diagnosis and understand the testing and management strategies in order to provide the best patient care.

The Effect of Sensori-Neural Hearing Loss on Threshold-Duration Functions

1968 ◽  
Vol 11 (4) ◽  
pp. 842-852 ◽  
Author(s):  
H. N. Wright
Keyword(s):  
Hearing Loss ◽  
Differential Diagnosis ◽  
Time Constant ◽  
Present Series ◽  
Auditory Disorders ◽  
Threshold Duration

Previous findings on the threshold for tones as a function of their duration have suggested that such functions may be systematically affected by sensori-neural hearing losses of cochlear origin. The present series of investigations was designed to explore this relation further and to determine also whether the amount of hearing loss present has any effect upon the results which are obtained. Preliminary studies were also carried out on a conductively impaired listener to indicate whether hearing losses of this type affect the threshold-duration function. The results indicate that the threshold-duration function is systematically affected by sensori-neural hearing losses of cochlear origin. This effect is manifested by a progressive shortening of the time constant relating threshold to duration and is not uniquely related to the amount of hearing loss present. The results obtained from the conductively impaired listener suggested that this type of hearing loss has no effect on the threshold-duration function, thereby implying that such functions may contribute significantly to the differential diagnosis of auditory disorders.

scholarly journals Acoustic reflex measurements and the loudness function in sensorineural hearing loss

1980 ◽  
Vol 27 (1) ◽  
Author(s):  
Sheila Uliel
Keyword(s):  
Hearing Loss ◽  
Differential Diagnosis ◽  
Sensorineural Hearing Loss ◽  
Acoustic Impedance ◽  
Pure Tone ◽  
Sensorineural Hearing ◽  
Acoustic Reflex ◽  
Reflex Responses ◽  
Loudness Function ◽  
The Individual

The suprathreshold acoustic reflex responses of forty two ears affected by sensorineural hearing loss of cochlear origin and fifty-eight ears demonstrating normal hearing, were recorded by means of an electro-acoustic impedance meter and attached X-Y recorder. The recordings were done in ascending and descending fashion,  at successively increasing and decreasing 5dB intensity levels from 90-120-90 dB HL respectively, for the individual pure-tone frequencies of 500, 1 000, 2 000 and 4 000 Hz. The contralateral mode of measurement was employed. Analysis of  these recordings indicated that the acoustic reflex  responses could be differentiated into five  characteristic patterns of  growth, which could be depicted upon a continuum of peaked, peaked-rounded, rounded, rounded-flat,  and flat  shapes. The peaked and peaked-rounded patterns were found  to predominate at all four pure-tone frequencies  in the normal ears, while the rounded-fiat  and flat  patterns were found  to predominate only at the higher pure-tone frequencies of 2 000 and 4 000 Hz in the ears affected  by sensorineural hearing loss. This latter relationship was also able to be applied to two disorders of  the loudness functio— loudness recruitment and hyperacusis. It was concluded that the flattened  acoustic reflex  patterns at the higher pure-tone frequencies  constituted a potential diagnostic cue related to the differential  diagnosis of sensorineural hearing loss, and to disorders of  the loudness function.

scholarly journals THE ROLE OF FAMILY INTERVENTION IN EARLY DETECTION OF CONGENITAL DEAFNESS: A CASE STUDY

2020 ◽  
Vol 1 (2) ◽  
pp. 98
Author(s):  
Alif Sholehen ◽  
Fajrinka Pralampito ◽  
Antonius Galih ◽  
Akbar Ghaus ◽  
Andi Airina ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Family Intervention ◽  
Congenital Deafness ◽  
Congenital Hearing Loss ◽  
Her Family ◽  
Problem Detection ◽  
Outcomes For Children ◽  
Children With Hearing Loss ◽  
Development Outcomes

Congenital deafness is a hearing loss disorder that occurs at birth and is one of the disorders that can cause complications when it is not treated.1 Children with hearing loss will face difficulties such as poor development outcomes, including poor speech and language skills and face difficulties with cognition and social-emotional interactions. Early intervention has been proven to be one of the most important factors leading to good outcomes for children with congenital hearing loss.2 This case study is intended to highlight the importance of early case detections, early interventions and how family support plays a crucial role in the development of children with hearing loss. With the support of her family, Ms. DRP has gone through several speech and hearing therapies since her surgery and has proven to have an above-average linguistic abilities, showing that early problem detection does not hinder the development and achievement of children with congenital hearing loss.

scholarly journals Tomographic diagnosis and relevant aspects of otosclerosis

2013 ◽  
Vol 46 (5) ◽  
pp. 307-312 ◽  
Author(s):  
Juliana Oggioni Gaiotti ◽  
Natália Delage Gomes ◽  
Ana Maria Doffémond Costa ◽  
Caroline Laurita Batista Couto Villela ◽  
Wanderval Moreira ◽  
...  
Keyword(s):  
Computed Tomography ◽  
Hearing Loss ◽  
Differential Diagnosis ◽  
Multidetector Computed Tomography ◽  
Surgical Planning ◽  
Otic Capsule ◽  
Metabolic Derangement ◽  
Pictorial Essay ◽  
Temporal Bone Anatomy ◽  
Endochondral Layer

A literature review and pictorial essay were developed to discuss the importance of knowing the main findings and locations of otosclerosis at multidetector computed tomography (MDCT). The authors performed a retrospective review of cases of otosclerosis diagnosed in their institution by means of high resolution multidetector computed tomography. Otosclerosis corresponds to otic capsule dysplasia characterized by metabolic derangement of its endochondral layer. Such condition constitutes a relevant cause of sensorineural hearing loss, affecting about 7% to 10% of the general population. The diagnosis is usually clinical, but imaging methods play a significant role in the anatomical detailing, differential diagnosis, surgical planning and evaluation of postoperative complications. Among such methods, the relevance of MDCT is highlighted. Radiologists should be familiar with the MDCT findings of otosclerosis, as well as with the temporal bone anatomy to assist in the appropriate clinical management of this disease.

Mitochondrial gene therapy improves respiration and biogenesis in mitochondrial diseases of children and adults

Mitochondrion ◽  
2012 ◽  
Vol 12 (5) ◽  
pp. 559-560
Author(s):  
Shilpa Iyer ◽  
Raj R. Rao ◽  
Erich Gnaiger ◽  
James P. Bennett
Keyword(s):  
Gene Therapy ◽  
Mitochondrial Gene ◽  
Mitochondrial Diseases

Facial Paralysis in Children: Differential Diagnosis

1981 ◽  
Vol 89 (5) ◽  
pp. 841-848 ◽  
Author(s):  
Mark May ◽  
Thomas J. Fria ◽  
Frank Blumenthal ◽  
Hugh Curtin
Keyword(s):  
Hearing Loss ◽  
Differential Diagnosis ◽  
Herpes Zoster ◽  
Facial Paralysis ◽  
Positive Family History ◽  
Pseudobulbar Palsy ◽  
Slow Progression ◽  
Facial Edema ◽  
Physical Findings ◽  
Fissured Tongue

The differential diagnosis in 170 patients between birth and 18 years of age is reviewed. There are a number of obvious physical findings and historical features that allow one to make a diagnosis rather quickly. Pain, vesicles, a red pinna, vertigo, and sensorineural hearing loss suggest herpes zoster oticus. Slow progression beyond three weeks, recurrent facial paralysis involving the same side, facial twitching, weakness, or no return of function after six months indicate a neoplasm. Bilateral simultaneous facial paralysis indicates a cause other than Bell's palsy, such as Guillain-Barré syndrome, pseudobulbar palsy, sarcoidosis, and leukemia. Recurrent facial paralysis associated with a fissured tongue, facial edema, and a positive family history should suggest Melkersson-Rosenthal syndrome.

Ellen Glasgow

2012 ◽  
Author(s):  
Catherine Rainwater
Keyword(s):  
Hearing Loss ◽  
Short Stories ◽  
Childhood Trauma ◽  
Social Life ◽  
Joseph Conrad ◽  
Thomas Hardy ◽  
Her Family ◽  
Family Home ◽  
Ellen Glasgow ◽  
Cruelty To Animals

Ellen Glasgow (b. 1873–d. 1945) was born in Richmond, Virginia. She enjoyed a career spanning nearly half a century as the author of poetry, short stories, novels, and nonfiction. The majority of her nineteen novels are set in Virginia, where she grew up as the ninth of ten children born to a severe, Calvinist father and a mild-mannered, Episcopalian mother who died when Ellen was twenty. A variety of emotional and intellectual conflicts traceable back to childhood trauma, especially the untimely loss of her mother, are reflected in her writing. At twenty Glasgow also began to suffer from hearing loss; from then on increasing deafness interfered with her social life. As a young child Glasgow refused to attend school owing to shyness, but she became impressively self-educated and was a voluminous reader. Her first novel, The Descendant (1897), examines political and philosophical issues that engaged her throughout her life. Although she wrote about the South, she objected vigorously to being labeled a regionalist. Repeatedly, she sought recognition as a modernist, and indeed her works explore epistemological questions concerning personal identity, history, and artistic expression from a markedly 20th-century perspective. Among writers she most admired were Joseph Conrad and Thomas Hardy. With Hardy she shared a great compassion for animals that is reflected in her fiction. For twenty years she served as president of the Richmond Society for the Prevention of Cruelty to Animals. Her best-known novels are Virginia (1913), Barren Ground (1925), The Sheltered Life (1932), and Vein of Iron (1935). She also published a collection of poems, a volume of short stories, an autobiography (The Woman Within, 1954), a book of literary critical statements, and miscellaneous nonfiction pieces in newspapers and magazines. Glasgow traveled widely throughout her life, but she always returned to her family home at 1 West Main, where she did most of her writing. Her house—restored and maintained to appear as it did when she lived there—is open to visitors in Richmond. Founded in Richmond in 1974, the Ellen Glasgow Society has maintained steady membership that includes both academics and a lay readership.

scholarly journals Autoimmune progesterone dermatitis following vaginal progesterone exposure in pregnancy

2018 ◽  
Vol 12 (2) ◽  
pp. 100-102 ◽  
Author(s):  
Tomi T Kanninen ◽  
Michael L Moretti ◽  
Nisha A Lakhi
Keyword(s):  
Differential Diagnosis ◽  
Adverse Effects ◽  
Hypersensitivity Reaction ◽  
Management Strategies ◽  
Cutaneous Lesions ◽  
Vaginal Progesterone ◽  
Delivery Unit ◽  
Pregnant State ◽  
Delayed Hypersensitivity Reaction ◽  
In Pregnancy

In the non-pregnant state, exogenous as well as endogenous fluctuations of progesterone have been demonstrated to cause a rare delayed hypersensitivity reaction known as autoimmune progesterone dermatitis. We describe the case of a 20-year-old woman in her second pregnancy who presented to our delivery unit at 31 weeks and 3 days gestation for a cutaneous breakout with pruritic pustules, blisters, and crusts across her chest back and extremities 23 days after the initiation of vaginal progesterone. After suspension of the vaginal progesterone, the patient’s cutaneous lesions resolved. Differential diagnosis and management strategies are discussed. With the increased use of progesterone during pregnancy, complications arising from their use will rise. Clinicians should be aware of their potential adverse effects and consider autoimmune progesterone dermatitis in the differential diagnosis of patients presenting with pruritic lesion in pregnancy.

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