scholarly journals Case Report and Literature Review: Homozygous DNAJC3 Mutation in a Saudi Family Causing Maturity Onset Diabetes of the Young (MODY), Hypothyroidism, Short Stature, Neurodegeneration, and Hearing Loss

2021 ◽  
Vol 5 (Supplement_1) ◽  
pp. A696-A697
Author(s):  
Saud Mohammed Alwatban ◽  
Haifa Alfaraidi ◽  
Majid Alfadhel ◽  
Angham N Almutair
Keyword(s):  
Hearing Loss ◽  
Literature Review ◽  
Short Stature ◽  
Mitochondrial Disease ◽  
Lifestyle Modification ◽  
Cervical Spinal Cord ◽  
Single Gene ◽  
Close Monitoring ◽  
Gh Treatment ◽  
Saudi Family

Abstract Introduction: Monogenic diabetes results from a mutation in single gene, predominantly inherited and typically affects the young. DNAJC3 acts in attenuating endoplasmic reticulum stress and is found in abundance in pancreatic tissue. Clinical Case: We report a homozygous DNAJC3 mutation in two siblings of a consanguineous Saudi family. A 3-year boy presented with short stature and thyroid nodule; lab findings confirmed hypothyroidism, with TSH 27.8 and FT4 6.7 (n: TSH:0.35-4.94 mIU/L, FT4:9.0-19 pmol/L). Subsequently, L-thyroxine was started. GH stimulation test was normal. He was severely short; 80.5 cm (< 1 percentile, -3.79 SD). The patient developed sensorineural hearing loss (SNHL) at 6 years. He had low intellectual function and weak school performance. GH treatment was postponed to age 9 due to strong family history of DM. At that point, the patient developed progressive ataxic gait, for which he had muscle biopsy that excluded mitochondrial disease and workup for multiple sclerosis, which was excluded. Brain and spine MRI showed prominent neurodegeneration in subcortical white matter. At age 11, the patient developed DM, 4 years after GH treatment initiation. DM autoimmune markers were negative on multiple occasions. Lifestyle modification was initiated but soon required basal and bolus insulin therapy. Whole exome sequencing revealed homozygous DNAJC3 mutation, which explained his clinical presentation. At age of 17, adult height was 141 cm (Z-score: -5.87). His older brother had similar history discovered retrospectively but did not develop neurodegeneration or ataxia from the same DNAJC3 mutation. Literature Review: Literature review revealed six individuals with homozygous DNAJC3 mutation. All patients developed DM, with onset ranging from 11 to 19 years, highly suggestive of MODY. Other endocrine manifestations included short stature, and hypothyroidism due to primary etiology; in view of elevated TSH levels, vs. being secondary, as suggested by the authors. All patients had mitochondrial disease workups and was excluded. Variable neurodegeneration degrees are described; SNHL, progressive ataxia, sensorimotor neuropathy, and cognitive deficits. MRI findings showed atrophy of cerebellum, brainstem, cervical spinal cord, and hyperintense T2 lesions typical of neurodegeneration. Conclusion: Homozygous DNAJC3 gene mutation fits MODY criteria, we propose recognizing it as one of the known MODY gene mutations. Hypothyroidism is due to primary etiology, evident by TSH spikes. Physicians evaluating mitochondrial disease in patients with a constellation of SNHL, DM, hypothyroidism, neurodegeneration, and short stature should suspect DNAJC3 as one differential diagnosis. GH treatment must be initiated cautiously, with close monitoring due to its known diabetogenic effect, especially in DNAJC3 mutations, defective endoplasmic stress attenuation mechanism.

Effect of Computerized Auditory Training on Speech Perception of Adults With Hearing Impairment

2013 ◽  
Vol 20 (3) ◽  
pp. 91-106 ◽  
Author(s):  
Rachel Pizarek ◽  
Valeriy Shafiro ◽  
Patricia McCarthy
Keyword(s):  
Hearing Loss ◽  
Speech Perception ◽  
Literature Review ◽  
Low Cost ◽  
Experimental Designs ◽  
Auditory Training ◽  
Hearing Impairments ◽  
Communicative Disorders ◽  
And Training

Computerized auditory training (CAT) is a convenient, low-cost approach to improving communication of individuals with hearing loss or other communicative disorders. A number of CAT programs are being marketed to patients and audiologists. The present literature review is an examination of evidence for the effectiveness of CAT in improving speech perception in adults with hearing impairments. Six current CAT programs, used in 9 published studies, were reviewed. In all 9 studies, some benefit of CAT for speech perception was demonstrated. Although these results are encouraging, the overall quality of available evidence remains low, and many programs currently on the market have not yet been evaluated. Thus, caution is needed when selecting CAT programs for specific patients. It is hoped that future researchers will (a) examine a greater number of CAT programs using more rigorous experimental designs, (b) determine which program features and training regimens are most effective, and (c) indicate which patients may benefit from CAT the most.

scholarly journals A Challenging Case of a Physeal Bar Endoscopic-Assisted Resection in a Short Stature Child: Case Report and Literature Review

2021 ◽  
pp. 115-120
Author(s):  
Melanie Ribau ◽  
Mário Baptista ◽  
Nuno Oliveira ◽  
Bruno Direito Santos ◽  
Pedro Varanda ◽  
...  
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Short Stature ◽  
Clinical Presentation ◽  
Normal Growth ◽  
Limb Length Discrepancy ◽  
Complete Excision ◽  
Physeal Bar ◽  
Surgical Options ◽  
The Ideal

Partial physeal bars may develop after injury to the growth plate in children, eventually leading to disturbance of normal growth. Clinical presentation, age of the patient, and the anticipated growth will dictate the best treatment strategy. The ideal treatment for a partial physeal bar is complete excision to allow growth resumption by the remaining healthy physis. There are countless surgical options, some technically challenging, that must be weighted according to each case’s particularities. We reviewed the current literature on physeal bars while reporting the challenging case of a short stature child submitted to a femoral physeal bar endoscopic-assisted resection with successful growth resumption. This case dares surgeons to consider all options when treating limb length discrepancy, such as the endoscopic-assisted resection which might offer successful results.

Idiopathic Short Stature

2001 ◽  
Vol 14 (s2) ◽  
Author(s):  
A.M. Pasquino ◽  
A. Albanese ◽  
M. Bozzola ◽  
G.E. Butler ◽  
F. Buzi ◽  
...  
Keyword(s):  
Short Stature ◽  
Adult Height ◽  
Idiopathic Short Stature ◽  
Psychological Benefits ◽  
Normal Children ◽  
Gh Treatment ◽  
Number Of Children ◽  
The Status ◽  
Gonadotrophin Releasing Hormone

AbstractIdiopathic short stature (ISS) is a term used to describe the status of children with short stature that cannot be attributed to a specific cause. Many children diagnosed as having ISS have partial GH insensitivity, which can result from disturbances at various points of the GH-IGF-I axis. Several clinical studies on spontaneous growth in ISS showed that adult height was almost in the range of target height. GH treatment led to adult height not significantly higher than the pretreatment predicted adult height in most reports. No metabolic side effects have been observed, even when the dose was higher than in GH deficiency. Manipulation of puberty with gonadotrophin releasing hormone analogues reported by a few authors in a small number of children has shown conflicting results. Long-term psychological benefits of GH therapy for short normal children have not been demonstrated to date.

scholarly journals Propranolol treatment of infantile subglottic hemangioma: a report of two cases and a literature review

Folia Medica ◽  
2021 ◽  
Vol 63 (4) ◽  
pp. 601-607
Author(s):  
Kalina Ganeva ◽  
Petar Shivachev ◽  
Nikolay Sapundzhiev ◽  
Lora Nikiforova
Keyword(s):  
Literature Review ◽  
Inhaled Corticosteroids ◽  
Previous Treatment ◽  
Infantile Hemangioma ◽  
Benign Tumors ◽  
Close Monitoring ◽  
Upper Respiratory Tract ◽  
Life Threatening ◽  
Propranolol Treatment ◽  
The Subject

Infantile hemangioma is one of the most common benign tumors of infancy. The natural evolution includes rapid growth followed by gradual involution. Airway hemangiomas are not that common, but they can lead to dyspnoea, as well as to life-threatening complications. Two children aged 3 months were admitted to the Pediatric Department with difficulties in breathing and with biphasic stridor. They had previously been hospitalized because of the same symptoms and misdiagnosed as having an upper respiratory tract infection. The previous treatment included intravenous or inhaled corticosteroids, without any significant improvement. Laryngoscopy was performed for both of the children. There was a mass in the subglottic area with the appearance of a hemangioma causing significant airway stenosis. We started treatment with propranolol at a dose of 1 mg/kg/day twice daily. The dose was gradually increased up to 3 mg/kg/day, under close monitoring. In the first 7 to 10 days after initiation of treatment, we observed a significant improvement of the respiratory distress. The second laryngoscopy showed an almost complete involution of the mass in the subglottis.  The focus of this article will be primarily on the clinical presentation and the therapeutic response of subglottic hemangioma, along with a literature review on the subject.

scholarly journals GH TREATMENT IN IDIOPATHIC SHORT STATURE: INFLUENCE OF PUBERTY AND SEX ON SKELETAL MATURATION AND GROWTH RESPONSE

1994 ◽  
Vol 35 (2) ◽  
pp. 263-263
Author(s):  
R L Hintz ◽  
K Attie ◽  
A Johanson ◽  
J Baptista ◽  
J Frane ◽  
...  
Keyword(s):  
Short Stature ◽  
Growth Response ◽  
Idiopathic Short Stature ◽  
Skeletal Maturation ◽  
Gh Treatment

Familial X/Y Translocation Encompassing ARSE in Two Moroccan Siblings with Sensorineural Deafness

2017 ◽  
Vol 153 (2) ◽  
pp. 66-72
Author(s):  
Saadia Amasdl ◽  
Wiam Smaili ◽  
Abdelhafid Natiq ◽  
Amale Hassani ◽  
Aziza Sbiti ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Short Stature ◽  
X Chromosome ◽  
Chromosome Region ◽  
Sensorineural Deafness ◽  
Bone Age ◽  
Chondrodysplasia Punctata ◽  
Y Chromosomes ◽  
Contiguous Gene ◽  
Potential Evaluation

Unbalanced translocations involving X and Y chromosomes are rare and associated with a contiguous gene syndrome. The clinical phenotype is heterogeneous including mainly short stature, chondrodysplasia punctata, ichthyosis, hypogonadism, and intellectual disability. Here, we report 2 brothers with peculiar gestalt, short stature, and hearing loss, who harbor an X/Y translocation. Physical examination, brainstem acoustic potential evaluation, bone age, hormonal assessment, and X-ray investigations were performed. Because of their dysmorphic features, karyotyping, FISH, and aCGH were carried out. The probands had short stature, hypertelorism, midface hypoplasia, sensorineural hearing loss, normal intelligence as well as slight radial and ulnar bowing with brachytelephalangy. R-banding identified a derivative X chromosome with an abnormally expanded short arm. The mother was detected as a carrier of the same aberrant X chromosome. aCGH disclosed a 3.1-Mb distal deletion of chromosome region Xp22.33pter. This interval encompasses several genes, especially the short stature homeobox (SHOX) and arylsulfatase (ARSE) genes. The final karyotype of the probands was: 46,Y,der(X),t(X;Y)(p22;q12).ish der(X)(DXYS129-,DXYS153-)mat.arr[hg19] Xp22.33(61091_2689408)×1mat,Xp22.33(2701273_3258404)×0mat,Yq11.222q12 (21412851_59310245)×2. Herein, we describe a Moroccan family with a maternally inherited X/Y translocation and discuss the genotype-phenotype correlations according to the deleted genes.

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