scholarly journals MTHFR GENE MUTATION AND ITS REPERCUSSION IN THE GENESIS AND TREATMENT OF DEPRESSION: CASE REPORT

2021 ◽  
Vol 9 (07) ◽  
pp. 415-421
Author(s):  
Alexandre Leal Laux ◽  
Alana Klochinski ◽  
Bruna Bobato ◽  
Evelyn Suquebski Dib ◽  
Harien Sprung ◽  
...  
Keyword(s):  
Case Report ◽  
Gene Mutation ◽  
Gene Mutations ◽  
Mthfr Gene ◽  
Major Depressive ◽  
Double Mutation ◽  
Residual Symptoms ◽  
Treatment Of Depression ◽  
Patient Reported

This study aims to report the correlation of MTHFR gene mutation with the genesis of depression and antidepressants non-response in a patient, highlighting the importance of genetic investigation and indicating the replacement of L-methylfolate as an effective treatment adjuvant. This is a case report of a patient diagnosed with major depressive disorder, refractory to pharmacological therapies, in monotherapy or combination therapy, and psychotherapy. After 1 year and 4 months of persistent residual symptoms, genetic testing of the MTHFR gene was requested with confirmation of a heterozygous double mutation of MTHFR. This gene polymorphism can result in deficiency of L-methylfolate, which is related to psychiatric diseases and refractoriness to antidepressant therapy. With the introduction of l-methylfolate 15mg, the patient reported remission of depressive symptoms in 4 months of follow-up. MTHFR gene mutations influence the action of folate, favoring depression and leading to refractory response to conventional treatment.

Bevacizumab-induced dysphonia: A case report with brief review of literature

2019 ◽  
Vol 26 (4) ◽  
pp. 1032-1036
Author(s):  
So Yi Lam ◽  
Chung-Shien Lee ◽  
Sandhya Sharma ◽  
Kit Cheng
Keyword(s):  
Ovarian Cancer ◽  
Case Report ◽  
Side Effect ◽  
Case Reports ◽  
Palliative Therapy ◽  
Ovarian Adenocarcinoma ◽  
Voice Changes ◽  
Patient Reported ◽  
Rare Side Effect

Introduction Anti-angiogenic treatment in adjunct with chemotherapy is widely used for the treatment of various cancers. These agents inhibit vascular endothelial growth factor (VEGF) signaling thereby inhibiting tumor proliferation and invasion. Dysphonia, or voice changes, has been documented, but is an underreported side effect of anti-angiogenic agents. We report a case of intermittent dysphonia in a patient with metastatic, platinum-refractory ovarian cancer treated with bevacizumab. Case report A 48-year-old female with high grade mixed type ovarian adenocarcinoma and concurrent left sided breast cancer was transitioned to palliative therapy with gemcitabine-bevacizumab for her ovarian cancer. At a follow-up visit after three cycles of the new therapy, the patient complained of intermittent changes in her voice, describing periods of hoarseness or softness in her voice after the chemotherapy—sometimes to the point that her voice was inaudible. Management and outcome: A new pelvic thrombus was discovered upon assessment of the patient’s disease. Bevacizumab was held and she was referred to ear, nose, and throat evaluation for dysphonia. Laryngoscopic examination showed normal vocal cord, with normal movements and no lesion or necrosis. During subsequent follow-up, the patient reported improvement in her voice with no additional dysphonia. Discussion Vocal adverse effects of anti-VEGF agents have been documented in landmark trials and case reports; however, clinicians are often unaware of this rare side effect. Although VEGF-induced dysphonia may be rare and may not impede the patient’s quality of life in some cases, it is critical to acknowledge and not underestimate this adverse effect.

Significance of MTHFR gene mutation with normal homocysteine level in vascular events

2009 ◽  
Vol 27 (15_suppl) ◽  
pp. e20520-e20520
Author(s):  
V. K. Gadiyaram ◽  
M. A. Khan ◽  
T. Hogan ◽  
R. Altaha ◽  
E. Crowell ◽  
...  
Keyword(s):  
Risk Factors ◽  
Gene Mutation ◽  
Gene Polymorphisms ◽  
Homocysteine Level ◽  
Fetal Loss ◽  
Gene Mutations ◽  
Mthfr Gene ◽  
Vascular Events ◽  
Laboratory Test Results ◽  
Increased Risk

e20520 Background: Hyperhomocysteinemia, due to a combination of genetic and environmental factors, is considered to be a risk factor for vascular disease. Two common variations of the MTHFR gene (C677T and A1298C) result in amino acid substitutions and enhanced thermolability of the enzyme. Individuals with MTHFR gene mutations appear to have raised plasma level of homocysteine which may lead to increased risk of vascular events. However, significance of MTHFR gene mutations with normal homocysteine levels is unknown. Objective: To assess the relation of MTHFR gene mutations with normal homocysteine level and risk of Vascular events (deep venous thrombosis (DVT), pulmonary embolism (PE), Ischemic Heart disease (IHD), cerebrovascular accidents (CVA),recurrent fetal loss). Methods: We reviewed the records of 90 patients referred to our benign hematology clinic for thrombophilia evaluation between 2006 and 2008. All available medical history for risk factors and laboratory test results, obtained from first vascular event through time of consultation, including genetic testing, were reviewed. Anti-cardiolipin antibody, MTHFR genotyping and Protein C and Protein S assays were performed at Warde Medical Laboratory, Ann Arbor, MI. Results: 61 patients with documented vascular events were tested for MTHFR gene mutations. Forty one of these patients also had homocysteine levels available. Thirty-eight of these 41 (92 %) patients had an MTHFR gene mutation with normal homocysteine levels. Eighteen (47%) of these 38 patients had only an MTHFR gene mutation with normal homocysteine level and no other congenital or acquired risk factors for vascular events identified. Conclusions: In our clinic population, many patients with documented vascular events had MTHFR gene polymorphisms with normal homocysteine levels with no other thrombophilia risk factors identified, raising the question of whether MTHFR gene polymorphisms alone, without hyperhomocysteinemia, may somehow contribute to thrombophilia. [Table: see text] No significant financial relationships to disclose.

scholarly journals Transitory restless arms syndrome in a patient with antipsychotics and antidepressants: a case report

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Juan Chen ◽  
Na Meng ◽  
Bingrong Cao ◽  
Yinghua Ye ◽  
Ying Ou ◽  
...  
Keyword(s):  
Major Depressive Disorder ◽  
Case Report ◽  
Clinical Practice ◽  
Depressive Disorder ◽  
Major Depressive ◽  
Case Presentation ◽  
First Choice ◽  
Patient Reported ◽  
Sustained Release Tablets ◽  
Medication Adjustment

Abstract Background Restless arms syndrome (RAS) is characterized by uncomfortable aching or burning sensations in the arms. RAS is regarded as an upper limb variant of restless legs syndrome (RLS). The lack of specific diagnostic criteria makes it difficult to recognize the RAS. Therefore, RAS is usually neglected in clinical practice. Moreover, when a patient was diagnosed with RAS, the adjustment of medications was the first choice for doctors, which may make the patient’s condition unstable. Case presentation A 33-year-old woman was diagnosed with schizophrenia and major depressive disorder. Starting with 0.6 g/d amisulpride, 0.1 g/d quetiapine, 75 mg/d venlafaxine sustained-release tablets, the patient reported symptoms of RAS (itching arms) on the fourth day since the latest hospitalization. After ruling out other factors, her RAS was suspected to be induced by antidepressants or antipsychotics. Without medication adjustment, RAS spontaneously remitted. Conclusions This case suggests that psychiatrists should pay attention to RAS when using antipsychotics and/or antidepressants. Moreover, RAS may be transitory. When a patient manifests RAS, observation may be one choice instead of an immediate medication adjustment.

scholarly journals Penetrating Orbitocranial Injury With a Good Aesthetic and Functional Outcome: A Case Report

2021 ◽  
Vol 7 (1) ◽  
pp. 61-66
Author(s):  
Youssef Fahde ◽  
◽  
Davis Mpando ◽  
Mehdi Laghmari ◽  
Houssine Ghannane ◽  
...  
Keyword(s):  
Case Report ◽  
Multidisciplinary Approach ◽  
Violent Behavior ◽  
Case Presentation ◽  
Frontal Horn ◽  
Patient Reported ◽  
Long Term Follow Up ◽  
Life Threatening

Background and Importance: Transorbitocranial assaults with sharp objects like a knife are rare neuro-ophthalmologic emergencies. However, they can have dramatic functional and life-threatening consequences. Our presentation aims to report the importance of an urgent multidisciplinary approach and to raise awareness among the general population on the importance of preventing violent behavior. Case Presentation: A 33-year-old man was a victim of a knife attack without obvious brain or ophthalmological lesions. The knife entered the medial part of the orbit. Neurological examination was normal, and Computed Tomography (CT) scan showed intracranial trajectory through the orbit to the frontal horn of the lateral ventricle. The knife was extracted without complications. The patient reported spectacular improvement in visual acuity without neurological or oculomotor deficit at long-term follow-up. In this case report, we will discuss the radiological diagnosis and surgical management of transorbital and orbitocranial injuries by foreign body penetration. Conclusion: Urgent multidisciplinary management in orbitocranial trauma by stabbing is mandatory to avoid life-threatening complications and irreversible damages.

scholarly journals Case Report

Hand ◽  
2016 ◽  
Vol 11 (4) ◽  
pp. NP38-NP40 ◽  
Author(s):  
Sanjay Naran ◽  
Joseph E. Imbriglia
Keyword(s):  
Case Report ◽  
Donor Site ◽  
Donor Site Morbidity ◽  
No Donor ◽  
Metacarpophalangeal Joints ◽  
Active Function ◽  
Patient Reported ◽  
Long Term Follow Up

Background: A case is discussed in which a young girl was born with symbrachydactyly of multiple digits in whom nonvascularized proximal toe phalanges were transferred to the aphalangic digits at the age of four. At 39 years of age, she presented incidentally to our clinic and was observed to have a very functional hand with mobile metacarpophalangeal joints in all reconstructed digits. Methods: We present a case report which is discussed in the context of long-term follow-up, and phalangeal growth in the absence of distraction, and a review of the current literature in regards to outcomes for this modality of treatment. Results: We document growth of the transplanted phalanges, despite surgery occurring after the reported optimum age of before 18 months, and the patient not undergoing distraction. The patient reported no donor site morbidity in regards to function or psychosocial impact. Furthermore, we observed active function at the metacarpophalangeal joints of all operated digits. Conclusions: We report the longest follow-up (35 years) following nonvascularized proximal toe phalangeal transfer for short finger type symbrachydactyly. We highlight the long-term functional outcome of nonvascularized toe phalangeal transfers, and present an overview of the current outcome literature for this type of procedure, advocating that nonvascularized toe phalangeal transfers remain a viable treatment option for select cases of symbrachydactyly.

scholarly journals Mini-implants: Alternative for Oral Rehabilitation of a Child with Ectodermal Dysplasia

2015 ◽  
Vol 26 (1) ◽  
pp. 75-78 ◽  
Author(s):  
Bianca Zeponi Fernandes Mello ◽  
Thiago Cruvinel Silva ◽  
Daniela Rios ◽  
Maria Aparecida Andrade Moreira Machado ◽  
Fabrício Pinelli Valarelli ◽  
...  
Keyword(s):  
Case Report ◽  
Ectodermal Dysplasia ◽  
Oral Rehabilitation ◽  
Mini Implants ◽  
Prosthesis Retention ◽  
Patient Reported ◽  
Long Term Follow Up ◽  
Socialization Skills

Ectodermal dysplasia is a rare congenital disease that affects several structures of ectodermal origin. The most commonly related oral characteristics are hypodontia, malformed teeth and underdeveloped alveolar ridges. New alternative treatments are needed due to the failure of the conventional prosthesis retention. This case report outlines the oral rehabilitation treatment of a 9-year-old girl with ectodermal dysplasia. The treatment was performed with conventional prosthesis upon mini-implants. The mini-implants provided prosthetic retention. The patient reported a good adaptation of the dental prosthesis and satisfaction with the treatment. The increased self-esteem improved the socialization skills of the girl. In this case report, use of prosthesis with mini-implants was satisfactory for prosthetic retention. However, clinical studies with long-term follow-up are needed to test the mini-implants as an alternative for oral rehabilitation of children with ectodermal dysplasia.

Use of the Tissue Stress Model as a Paradigm for Developing an Examination and Management Plan for a Patient with Plantar Fasciitis

2002 ◽  
Vol 92 (9) ◽  
pp. 499-506 ◽  
Author(s):  
Michael Ross
Keyword(s):  
Case Report ◽  
Plantar Fasciitis ◽  
Plantar Fascia ◽  
Management Plan ◽  
Stress Model ◽  
Patient History ◽  
Stress Treatment ◽  
Patient Reported ◽  
History Of

This case report demonstrates the use of the tissue stress model to develop an examination, evaluation, and management plan for a patient with an 8-week history of plantar fasciitis. The patient history focused on determining which tissues were being excessively stressed, and the physical examination was used to apply controlled stresses to these tissues and to determine factors contributing to the patient’s condition. After it was confirmed that the patient’s plantar fascia was under excessive mechanical stress, treatment first focused on reducing pain, inflammation, and stress on the plantar fascia and then on returning the patient to her running program while maintaining symptoms at a diminished level. The patient reported being free of pain 7 weeks after the initial physical therapy examination and at the 11-week telephone follow-up. Although no experimental evidence is given, this report suggests that this patient responded positively to treatment based on the tissue stress model. (J Am Podiatr Med Assoc 92(9): 499-506, 2002)

scholarly journals ARID1A genomic alterations driving microsatellite instability through somatic MLH1 methylation with response to immunotherapy in metastatic lung adenocarcinoma: a case report

2021 ◽  
Vol 15 (1) ◽  
Author(s):  
Mercedes Durán ◽  
Iris Faull ◽  
Enrique Lastra ◽  
Jean-Francois Laes ◽  
Ana Belén Rodrigo ◽  
...  
Keyword(s):  
Case Report ◽  
Lung Adenocarcinoma ◽  
Microsatellite Instability ◽  
Gene Mutation ◽  
Promoter Methylation ◽  
Liquid Biopsy ◽  
Gene Mutations ◽  
Gene Promoter ◽  
First Case ◽  
Metastatic Lung

Abstract Background Tumor molecular screening allows categorization of molecular alterations to select the best therapeutic strategy. AT-rich interactive domain-containing 1A (ARID1A) gene mutations are present in gastric, endometrial, and clear cell ovarian tumors. Inactivation of this gene impairs mismatch repair (MMR) machinery leading to an increased mutation burden that correlates with microsatellite instability (MSI), associated with tumor-infiltrating lymphocytes and programmed death ligand 1 (PD-L1) expression. This is the first case report in lung adenocarcinoma of ARID1A gene alterations leading to sporadic MSI, through somatic mutL homolog 1 (MLH1) promoter methylation, with an MLH1 gene mutation as the second somatic hit. Case presentation A 50-year-old never-smoker Bulgarian woman, with no comorbidities and no family history of cancer, was diagnosed with metastatic lung adenocarcinoma. PD-L1 immunohistochemistry (IHC) of tissue biopsies on right groin adenopathies resulted in 30% positivity. Liquid biopsy test reported actionable alterations in ARID1A gene, rearranged during transfection (RET) gene fusions, epidermal growth factor receptor (EGFR) gene R776H mutation, breast cancer (BRCA) genes 1/2, and cyclin-dependent kinase inhibitor 2A (CDKN2A) gene mutations. The patient was treated with immunotherapy, and showed a treatment response lasting for 19 months until a new metastasis appeared at the right deltoid muscle. Genomic analysis of a sample of this metastasis confirmed PD-L1 positivity of greater than 50% with CD8+ T cells expression and showed MSI with a deleterious c.298C>T (p.R100*) MLH1 gene mutation. Multiplex ligation-dependent probe amplification (MLPA) of this sample unveiled MLH1 gene promoter methylation. The MLH1 gene mutation and the MLH1 gene methylation were not present at the germline setting. Conclusions In this particular case, we show that ARID1A gene mutations with sporadic MSI due to somatic MLH1 gene promoter methylation and MLH1 gene mutation could change the prognosis and define the response to immunotherapy in a patient with lung adenocarcinoma. Comprehensive solid and liquid biopsy tests are useful to find out resistance mechanisms to immune checkpoint inhibitors. Our data encourages the development of new therapies against ARID1A mutations and epigenomic methylation when involved in MSI neoplasms.

Abstract #528 Case Report: Homozygous C677T MTHFR Gene Mutation in Male with Hypogonadism

2019 ◽  
Vol 25 ◽  
pp. 264-265
Author(s):  
Rami Salameh ◽  
Catherine Anastasopoulou ◽  
Mumtaheena Miah
Keyword(s):  
Case Report ◽  
Gene Mutation ◽  
Mthfr Gene ◽  
C677t Mthfr

New phenotype caused by POMGNT2 mutations

2021 ◽  
Vol 14 (7) ◽  
pp. e242358
Author(s):  
Marco Cassone ◽  
Chiara Fiorillo ◽  
Federico Zara ◽  
Carlo Vitali
Keyword(s):  
Case Report ◽  
Muscular Dystrophy ◽  
Missense Mutation ◽  
Genetic Screening ◽  
Gene Mutations ◽  
Intermediate Phenotype ◽  
Review Of Literature ◽  
Mild Form ◽  
Phenotype Correlation

We present a case report about a Moroccan 3-year-old girl, with an intermediate phenotype of muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 8 form. We performed clinical and instrumental evaluation, muscle biopsy, genetic screening of 59 genes for different cerebral malformations, follow-up and review of literature. After investigations, we identified an intermediate new phenotype between the severe and mild form, characterised by significant malformations of the cortex with myopatic symptoms, this increases the genotype–phenotype correlation knowledge about POMGNT2 gene mutations. New homozygous missense mutation on POMGNT2 (c.511 G>A, p.Asp171Asn, rs768063378) was detected.

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