scholarly journals The Effect of Amino Acid, Carbohydrate, and Lipid Metabolism Disorders on Eyes

2020 ◽  
Vol 6 (3) ◽  
pp. 190-196
Author(s):  
Abdolreza Medghalchi ◽  
Keyword(s):  
Metabolic Disorders ◽  
Metabolic Diseases ◽  
Age Of Onset ◽  
Genetic Disorders ◽  
Clinical Manifestations ◽  
Final Diagnosis ◽  
Lipid Metabolism Disorders ◽  
Inherited Metabolic Disorders ◽  
Ophthalmological Assessment

Inherited metabolic disorders (IMDs) are a class of genetic disorders. Each metabolic disorder may have different forms with different age of onset, clinical manifestations, severity, and even type of inheritance. Ideally, a group of different specialists, including ophthalmologists, pediatricians, biochemists, and medical geneticists are needed for the final diagnosis and management of IMDs. Because of the importance of the aforementioned issue, we investigated the effect of IMDs on the eye in this review. Metabolic disorders can induce abnormalities in conjunctiva, cornea, lens, retina, optic nerve, and eye motility.  In this study, the authors aimed to address the effect of metabolic diseases of amino acids, carbohydrates, and lipids on eye metabolism. Because of the direct toxic mechanisms of abnormal metabolites on the eyes and regarding the effect of eye monitoring on follow-up, management, and treatment of IMDs, a detailed ophthalmological assessment is essential.

INHERITED METABOLIC DISORDERS AND HEART DISEASES

2019 ◽  
Author(s):  
Vjekoslav Krželj ◽  
Ivana Čulo Čagalj
Keyword(s):  
Metabolic Disorders ◽  
Metabolic Diseases ◽  
Technological Development ◽  
Heart Diseases ◽  
Glycogen Storage ◽  
Acid Oxidation ◽  
Lysosomal Storage ◽  
Glycogen Storage Diseases ◽  
Coronary Diseases ◽  
Inherited Metabolic Disorders

Inherited metabolic disorders can cause heart diseases, cardiomyopathy in particular, as well as cardiac arrhythmias, valvular and coronary diseases. More than 40 different inherited metabolic disorders can provoke cardiomyopathy, including lysosomal storage disorders, fatty acid oxidation defects, organic acidemias, amino acidopathies, glycogen storage diseases, congenital disorders of glycosylation as well as peroxisomal and mitochondrial disorders. If identified and diagnosed on time, some of congenital metabolic diseases could be successfully treated. It is important to assume them in cases when heart diseases are etiologically undefined. Rapid technological development has made it easier to establish the diagnosis of these diseases. This article will focus on common inherited metabolic disorders that cause heart diseases, as well as on diseases that might be possible to treat.

scholarly journals The Ophthalmological Manifestations of Various Inborn Errors of Metabolism: A Narrative Review

2021 ◽  
Vol 9 (2) ◽  
pp. 137-144
Author(s):  
Abdolreza Medghalchi ◽  
◽  
Afagh Hassanzadeh Rad ◽  
Setila Dalili ◽  
◽  
...  
Keyword(s):  
Inborn Errors Of Metabolism ◽  
Genetic Disorders ◽  
Single Gene ◽  
Scientific Information ◽  
Narrative Review ◽  
Inborn Errors ◽  
Relevant Evidence ◽  
Ocular Manifestations ◽  
Inherited Metabolic Disorders

Context: Inborn errors of metabolism or Inherited Metabolic Disorders (IMD) are a class of genetic disorders that occur because of single-gene defects. Evidence Acquisition: In this narrative review article, the authors searched Institute for Scientific Information (ISI), Web of Science, PubMed, and Google Scholar for the relevant evidence. Results: The ocular manifestations of IMDs can be distinguished in different diseases such as Albinism, Cystinosis, Homocystinuria, and Sulfite oxidize deficiency, Mannosidosis, Fucosidosis, Sialidosis, etc. Conclusions: Due to the direct toxic mechanisms of abnormal metabolites on eyes and regarding the effect of eye monitoring on the follow-up, management, and treatment, a detailed ophthalmological assessment is essential.

scholarly journals DIFFERENTIAL DIAGNOSTICS OF INHERITED METABOLIC DISORDERS IN NEWBORNS

2020 ◽  
Vol 73 (6) ◽  
pp. 1211-1216
Author(s):  
Tetiana K. Znamenska ◽  
Olga V. Vorobiova ◽  
Тetiana V. Holota ◽  
Vera V. Kryvosheieva ◽  
Valeriy I. Pokhylko
Keyword(s):  
Metabolic Diseases ◽  
Differential Diagnostics ◽  
Inborn Errors ◽  
Molecular Tests ◽  
Inherited Metabolic Disorders ◽  
Expanded Newborn Screening ◽  
Confirmatory Tests ◽  
Pathogenetic Therapy ◽  
Diagnostic Work

The aim: To compose an applicable diagnostic checklist for neonatologists, pediatricians, and general practitioners who refer newborns with certain inherited metabolic diseases (IMDs) suspicion to confirmatory testing laboratories. Materials and methods: Analyzed international and generally, known national clinical guides and recommendations devoted to IMDs diagnostics, treatment and follow up. Results: Considering integral character of the diagnostic work-up of inborn errors of metabolism, authors of this article composed an applicable checklist that comprises set of data necessary for interpretation the positive results of expanded newborn screening and making decision of appropriate biochemical and molecular tests are required for confirmatory follow-up testing to establish the diagnosis and prescribe pathogenetic therapy. Conclusions: Properly filled checklist allow metabolic professionals to select appropriate confirmatory tests and interpret results obtained. Early IMDs diagnosis and prompt treatment initiation are crucial for positive outcomes and proved to be an effective tool to decrease levels of child disability and infant mortality.

Clinical and molecular spectrum associated with Polymerase-γ related disorders

2022 ◽  
pp. 088307382110670
Author(s):  
Ruchika Jha ◽  
Harshkumar Patel ◽  
Rachana Dubey ◽  
Jyotindra N. Goswami ◽  
Chandana Bhagwat ◽  
...  
Keyword(s):  
Age Of Onset ◽  
Pediatric Population ◽  
Single Gene ◽  
Management Strategies ◽  
Clinical Manifestations ◽  
Progressive External Ophthalmoplegia ◽  
Leigh Disease ◽  
Pathogenic Variants ◽  
Phenotype Analysis

Background POLG pathogenic variants are the commonest single-gene cause of inherited mitochondrial disease. However, the data on clinicogenetic associations in POLG-related disorders are sparse. This study maps the clinicogenetic spectrum of POLG-related disorders in the pediatric population. Methods Individuals were recruited across 6 centers in India. Children diagnosed between January 2015 and August 2020 with pathogenic or likely pathogenic POLG variants and age of onset <15 years were eligible. Phenotypically, patients were categorized into Alpers-Huttenlocher syndrome; myocerebrohepatopathy syndrome; myoclonic epilepsy, myopathy, and sensory ataxia; ataxia-neuropathy spectrum; Leigh disease; and autosomal dominant / recessive progressive external ophthalmoplegia. Results A total of 3729 genetic reports and 4256 hospital records were screened. Twenty-two patients with pathogenic variants were included. Phenotypically, patients were classifiable into Alpers-Huttenlocher syndrome (8/22; 36.4%), progressive external ophthalmoplegia (8/22; 36.4%), Leigh disease (2/22; 9.1%), ataxia-neuropathy spectrum (2/22; 9.1%), and unclassified (2/22; 9.1%). The prominent clinical manifestations included developmental delay (n = 14; 63.7%), neuroregression (n = 14; 63.7%), encephalopathy (n = 11; 50%), epilepsy (n = 11; 50%), ophthalmoplegia (n = 8; 36.4%), and liver dysfunction (n = 8; 36.4%). Forty-four pathogenic variants were identified at 13 loci, and these were clustered at exonuclease (18/44; 40.9%), linker (13/44; 29.5%), polymerase (10/44; 22.7%), and N-terminal domains (3/44; 6.8%). Genotype-phenotype analysis suggested that serious outcomes including neuroregression (odds ratio [OR] 11, 95% CI 2.5, 41), epilepsy (OR 9, 95% CI 2.4, 39), encephalopathy (OR 5.7, 95% CI 1.4, 19), and hepatic dysfunction (OR 4.6, 95% CI 21.3, 15) were associated with at least 1 variant involving linker or polymerase domain. Conclusions We describe the clinical subgroups and their associations with different POLG domains. These can aid in the development of follow-up and management strategies of presymptomatic individuals.

scholarly journals Clinical Characteristics of Nodular Fasciitis of Ear in Children

2021 ◽  
Author(s):  
Xiaoxu Wang ◽  
Wei Liu ◽  
Lejian He ◽  
Min Chen ◽  
Jianbo Shao ◽  
...  
Keyword(s):  
Surgical Resection ◽  
Clinical Characteristics ◽  
Clinical Manifestations ◽  
Neck Surgery ◽  
Final Diagnosis ◽  
Diagnosis And Treatment ◽  
Nodular Fasciitis ◽  
Gene Test ◽  
The Right

Abstract Purpose Summarized the clinical characteristics and diagnosis and treatment process of three cases of nodular fasciitis of ear, to provide a basis for clinical diagnosis and treatment. Methods Reviewed the clinical manifestations, images, pathology, treatment and postoperative follow up results of three cases of pediatric nodular fasciitis in the Department of Otorhinolaryngology, Head and Neck Surgery, Beijing Children's Hospital, Capital Medical University from 2018 to 2020. Results The average age at diagnosis were 24 months, with two girls and a boy. Two lesions were found in the left ear and one in the right ear. All cases had a history of biopsy before surgery. Two of three cases showed a sign of rapid growth after biopsy and three of which were ineffective in anti-inflammatory treatment. FISH test for USP6 were performed in two of the three cases with positive results. Three lesions show a hypointensity or isointensity on T1-weighted MRI and a heterogeneous hyperintensity on T2-weighted MRI. ‘‘Fascial tail’’ sign was found on image of all three cases. All lesions underwent surgical resection. Follow-up showed no recurrence and had an intact ear appearance. Conclusion The early misdiagnosis rate of nodular fasciitis of the ear is high. Combine clinical features with imaging findings may improve the accuracy of preoperative diagnosis. Besides the appearance of pathology, USP6 gene test is also an important tool in the diagnosis. The final diagnosis should be based on comprehensive assessment. Complete surgical resection can prevent recurrence.

scholarly journals The PREVALENCE OF CLINICAL SPECTRUM OF INHERITED METABOLIC DISORDERS IN INFANTS AND CHILDREN AT A TERTIARY CARE HOSPITAL IN RAWALPINDI, PAKISTAN

2020 ◽  
Vol 70 (6) ◽  
pp. 1616-21
Author(s):  
Ayesha Batool ◽  
Saeed Zaman ◽  
Ammara Ayub ◽  
Kulsum Bilal ◽  
Qudratullah Malik
Keyword(s):  
Metabolic Disorders ◽  
Tertiary Care Hospital ◽  
Tertiary Care ◽  
Clinical Manifestations ◽  
Infants And Children ◽  
P Value ◽  
Care Hospital ◽  
Inherited Metabolic Disorders ◽  
Wide Range ◽  
In Infants And Children

Objective:  To determine the frequency of a wide range of clinical presentations of inherited metabolic disorders diagnosed in infants and children at a tertiary care hospital in Rawalpindi, Pakistan. Study Design: Cross sectional study Place and Duration of Study: MH Rawalpindi, from June 2015 till June 2016. Material and Methods:  64 children diagnosed with metabolic disorders, reporting to the MH Rawalpindi, were enrolled in the study. History was taken with special reference to family history, consanguineous marriage, sibling’s death and clinical manifestations. Thorough physical examination was done in every patient to find out the clinical signs present. All the data was recorded on a proforma. SPSS-20 version was used to derive the results and p-value of <0.05 was taken as statistically significant. Results: In children with metabolic disorders, gastrointestinal manifestations were more significant 78·1% (p-value 0.022). Neurological signs were present in 60·9% (p-value 0.094) while respiratory manifestations were present in 15·6% children (p-value 0.251). 53·1% were males and 46·9% were females. The positive history of other affected children in family was significant (p-value 0.015), along with hypoglycaemia (p-value 0.001). Conclusion:  Pallor, failure to thrive, poor feeding, convulsions, lethargy and hypoglycemia were the most frequent clinical manifestations in children with metabolic disorders.

scholarly journals Adenomatous Tumors of the Middle Ear: A Literature Review

2017 ◽  
Vol 21 (03) ◽  
pp. 308-312 ◽  
Author(s):  
Flavia Cardoso ◽  
Eduardo Machado Monteiro ◽  
Livia Lopes ◽  
Marianna Avila ◽  
Bernardo Scarioli
Keyword(s):  
Middle Ear ◽  
Age Of Onset ◽  
Case Reports ◽  
Preoperative Evaluation ◽  
Somatostatin Analogs ◽  
Clinical Manifestations ◽  
Ossicular Chain ◽  
Final Diagnosis ◽  
Small Series ◽  
Conductive Hearing

Introduction Neuroendocrine adenomas of the middle ear (NAME) are uncommon causes of middle ear masses. Mostly limited to case reports and small series, the literature is poor in providing an overall assessment of these tumors. Objective To review the current literature about all aspects of the disease, including its etiology, clinical manifestations, diagnosis, and treatment. Data Synthesis The pathogenesis of adenomatous tumors of the middle ear is not clear yet. One potential explanation is that an undifferentiated pluripotent endodermal stem cell may still be present in the middle ear mucosal surface, and may be the origin of the tumors. It typically appears as a nonspecific retrotympanic mass. The average age of onset for the disease is the fifth decade, and the most common clinical symptom is conductive hearing loss. Malign behavior is rare. There are numerous differential diagnoses of NAME. The final diagnosis depends on microscopic findings. The preoperative evaluation should include the use of computed tomography and magnetic resonance imaging. The adjunctive therapy of middle ear adenomatous tumors with radiotherapy, chemotherapy or somatostatin analogs is generally not recommended. Conclusion There is still much debate on pathogenesis and classification of NAME. Saliba's classification is currently the most complete and preferable one. Aggressive surgical procedure with ossicular chain excision is the gold standard treatment. Follow-up with physical and radiological exams is mandatory, particularly if the first procedure was conservative, without the removal of the encased ossicles.

Congenital primary cerebral angiosarcoma

2000 ◽  
Vol 92 (3) ◽  
pp. 466-468 ◽  
Author(s):  
Yasuhiro Suzuki ◽  
Yasuko K. Yoshida ◽  
Reizo Shirane ◽  
Takashi Yoshimoto ◽  
Mika Watanabe ◽  
...  
Keyword(s):  
Mr Imaging ◽  
Histopathological Examination ◽  
Good Condition ◽  
Clinical Manifestations ◽  
Final Diagnosis ◽  
Abdominal Ultrasonography ◽  
Content Type ◽  
The Central Nervous System ◽  
Specific Antigens

✓ Reports of angiosarcoma arising in the central nervous system are rare. The authors present the case of a 30-day-old infant with clinical manifestations of projectile vomiting and tense anterior fontanelle resulting from a left frontotemporal tumor. Total excision of this highly vascular, well-circumscribed tumor was performed without incident, and histopathological examination revealed a malignant angiosarcoma. Immunohistochemical reaction of the neoplastic cells was diffusely positive for endothelium-specific antigens including factor VIII-related antigen, CD31, and CD34. The final diagnosis of congenital primary cerebral angiosarcoma was thus confirmed. The patient's postoperative course was uneventful, and he was discharged 2 weeks after the operation. He was in good condition with no sign of recurrence after 11 months; follow-up computerized tomography, magnetic resonance (MR) imaging, and abdominal ultrasonography studies demonstrated no tumor regrowth. The characteristic findings for this tumor on MR imaging, the immunohistochemical findings, and surgical outcome are discussed.

scholarly journals Metabolic Syndrome “Interacts” With COVID-19

2020 ◽  
Author(s):  
Zeling Guo ◽  
Shanping Jiang ◽  
Zilun Li ◽  
Sifan Chen
Keyword(s):  
Metabolic Disorders ◽  
Distress Syndrome ◽  
Metabolic Diseases ◽  
Clinical Manifestations ◽  
Severe Pneumonia ◽  
Symptomatic Treatment ◽  
Angiotensin Converting Enzyme 2 ◽  
Treatment And Prevention ◽  
Global Pandemic ◽  
Metabolic Comorbidities

COVID-19, caused by the severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2), has emerged as a global pandemic and poses a great threat to public health and society in general. SARS-CoV-2 invades cells via its spike protein, which initiates endocytosis via its binding to host receptor angiotensin-converting enzyme 2 (ACE2) and membrane fusion after being cleaved by the serine protease, TMPRSS2. The most common clinical manifestations are fever, dry cough, fatigue and abnormalities on chest computed tomography (CT). However, some patients rapidly progress to severe pneumonia and develop acute respiratory distress syndrome (ARDS). Furthermore, SARS-CoV-2 triggers a severe cytokine storm, which may explain the deterioration of pre-existing metabolic disorders. Interestingly, conversely, underlying metabolic-related diseases, including hypertension, diabetes, cardiovascular disease, etc., are associated with progression and poor prognosis of COVID-19. The putative mechanisms are dysregulation of ACE2, impaired immunity especially uncontrolled hyperinflammation, hypercoagulability, etc. In this review, we summarize the crosstalk between COVID-19 and metabolic diseases and propose that in addition to controlling COVID-19, more intensive attention should be paid to the symptomatic treatment and prevention of pre-existing and foreseeable metabolic comorbidities.

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