Methionine Synthase Deficiency: Variable Clinical Presentation And Benefit Of Early Diagnosis And Treatment

2021 ◽  
Author(s):  
Kimberly A. Kripps ◽  
Leighann Sremba ◽  
Austin A. Larson ◽  
Johan L.K. Van Hove ◽  
Hoanh Nguyen ◽  
...  
Keyword(s):  
Early Diagnosis ◽  
Clinical Presentation ◽  
Methionine Synthase ◽  
Diagnosis And Treatment ◽  
Variable Clinical Presentation

scholarly journals A case of an 81-year-old woman with ‘broken-heart syndrome’ after a house fire

2017 ◽  
Vol 5 (20) ◽  
pp. 54
Author(s):  
Teryn Perkins ◽  
Kenneth Iwuji ◽  
Phumpattra Chariyawong ◽  
Leigh Ann Jenkins
Keyword(s):  
Early Diagnosis ◽  
Takotsubo Cardiomyopathy ◽  
Wall Motion ◽  
Clinical Presentation ◽  
Apical Ballooning ◽  
Diagnosis And Treatment ◽  
Broken Heart Syndrome ◽  
Wall Motion Abnormalities ◽  
Heart Contraction ◽  
Post Menopausal

Takotsubo cardiomyopathy is a transient cardiomyopathy predominantly characterized byleft ventricular hypokinesis and wall motion abnormalities, usually apical ballooning during thesystolic phase of heart contraction. The clinical presentation may closely mimic acute coronarysyndrome. The majority of the cases are diagnosed in post-menopausal Caucasian women.The exact mechanism of takotsubo cardiomyopathy is unknown. To avoid complications andmortality, early diagnosis and treatment are important.

scholarly journals Congenital Dermal Sinus: case series and the consequences of late diagnosis and treatment

2020 ◽  
Vol 2 (3(September-December)) ◽  
pp. e622020
Author(s):  
Alick Durão Moreira ◽  
Antonio Bellas ◽  
Marcelo Sampaio Poousa ◽  
Rafaeldos Santos Mitraud Mitraud ◽  
Tatiana Protzenko
Keyword(s):  
Early Diagnosis ◽  
Clinical Presentation ◽  
Focal Point ◽  
Case Series ◽  
Diagnosis And Treatment ◽  
Definitive Treatment ◽  
Dermal Sinus ◽  
Lumbar Region ◽  
Image Study ◽  
Life Threatening

Introduction:Congenital Dermal Sinuses (CDS) are rare closed dysraphisms that can present throughout the extent of the neuroaxis. They occur due to a failure of the disjunction of the neuroectoderm and cutaneous ectoderm in a focal point during 3-4 week of embryogenic development. The prevalence of CDS of all types has been estimated to be 1 in 2,500 live births, most commonly localized in the lumbar region. More than half of the cases are associated with dermoid or epidermoid tumors. Clinical presentation of CDS usually consists in cutaneous stigmas like dimples, which has the potential to be diagnosed at birth. However, the majority of patients are diagnosed older and after complications such as meningitis, abscess, osteomyelitis, rupture of an associated epi/dermoid cyst. Once suspected the patient should be submitted to an image study with CT scan and/or MRI, and surgical consultation. Complete exeresis is the definitive treatment. Case report: we present 3 cases of CDS, including an extremely rare case of frontonasal location, to illustrate the extent of the disease and the importance of early diagnosis and treatment. All of the 3 cases presented with complications, requiring surgical treatment and long term antibiotic therapy. Conclusion: Although well reported in the literature, CDS are usually diagnosed after complications. The knowledge of clinical presentation, early diagnosis and treatment are essential to prevent its life threatening complications. 

scholarly journals Complex Congenital Heart Disease in an Infant - A Case Report and Review

2021 ◽  
Vol 10 (39) ◽  
pp. 3505-3507
Author(s):  
Srinivas Naik ◽  
Sourya Acharya ◽  
Gajendra Agrawal ◽  
Chetan Rathi ◽  
Sunil Kumar
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Early Diagnosis ◽  
Congenital Heart ◽  
Clinical Presentation ◽  
Heart Diseases ◽  
Diagnosis And Treatment ◽  
Ductus Venosus ◽  
Congenital Heart Diseases ◽  
Life Threatening

Congenital heart disease (CHD) often poses a great diagnostic challenge for physicians. Despite antenatal diagnostic tests advancing to a great level, accurate diagnosis and treatment of congenital heart diseases is mandatory. These diseases range from mild to severe life-threatening scenarios sometimes having vague presentations making diagnosis even more difficult. Early diagnosis and treatment are usually lifesaving.1 Congenital heart diseases can often be classified as cyanotic and acyanotic based on clinical presentation. After birth, fetal structures like foramen ovale, ductus venosus and ductus arteriosus are no longer required for survival and they begin to close.2 Persistence of such structures after birth is a sign of congenital heart diseases. High mortality contributing diseases which require prompt intervention include hypoplastic left heart syndrome (HLHS), coarctation of aorta (COA), interrupted aortic arch (IAA), transposition of the great arteries (TGA), total anomalous pulmonary venous return (TAPVR), critical aortic stenosis (AS) pulmonary atresia (PA) and tricuspid atresia (TA).3 They contribute to significant mortality amongst neonatal age groups. Recognition of congenital heart diseases based on clinical fractures like cyanosis, tachycardia, tachypnoea, irritability, refusal to feed stabilisation and prompt referral to tertiary cardiac centre are critical to improve outcomes in neonates with CHDs, seizures, murmur etc is diagnostically challenging but lifesaving. Life-threatening CHDs may perhaps present with cyanosis, respiratory distress, shock or collapse; all of these are also frequent clinical presentation of various respiratory problems or sepsis in newborn. Early diagnosis and prompt treatment are the only life saving measures.

scholarly journals An infant with an extremely rare cobalamin disorder: methionine synthase deficiency and importance of early diagnosis and treatment

2019 ◽  
Vol 61 (2) ◽  
pp. 282
Author(s):  
Çiğdem Seher Kasapkara ◽  
Ebru Yılmaz-Keskin ◽  
Ferda Özbay-Hoşnut ◽  
Meltem Akçaboy ◽  
Emine Polat ◽  
...  
Keyword(s):  
Early Diagnosis ◽  
Methionine Synthase ◽  
Diagnosis And Treatment

Application of Efficient Nanoparticles for Early Diagnosis and Treatment of Cancer

2015 ◽  
Vol 16 (8) ◽  
pp. 662-675 ◽  
Author(s):  
Athanasios Alexiou ◽  
Charalampos Vairaktarakis ◽  
Vasilis Tsiamis ◽  
Ghulam Ashraf
Keyword(s):  
Early Diagnosis ◽  
Diagnosis And Treatment

Invasive Group A Streptococcal infections in children

2020 ◽  
Vol 16 ◽  
Author(s):  
Molla Imaduddin Ahmed ◽  
Rosalind V Saunders ◽  
Srini Bandi
Keyword(s):  
Early Diagnosis ◽  
Management Practices ◽  
Clinical Presentation ◽  
Streptococcal Infections ◽  
Invasive Group ◽  
Children's Hospital ◽  
Good Outcome ◽  
Children’S Hospital ◽  
Group A

: We reviewed the clinical presentation and management of children with Invasive group A streptococcal infections admitted to our tertiary Children’s Hospital in the last eight years. Our study highlighted the varied symptomatology and management practices in children with iGAS and showed that early diagnosis and prompt initiation of appropriate antibiotics for iGAS can help in resolution of symptoms and good outcome.

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