research SCURVY PRESENTING WITH CUTANEOUS AND ARTICULAR SIGNS AND DECREASE IN RED AND WHITE BLOOD CELLS
Vitamin C is essential to prevent scurvy and its symptoms.
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research A case of MBTPS1 ‐related disorder due to compound heterozygous variants in MBTPS1 gene: Genotype–phenotype expansion and the emergence of a novel syndrome
A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
research DETERMINANTS ELEMENTS OF ANEMIA IN PREGNANT WOMEN CONSULTING IN HEALTH CARE STRUCTURE OF CASABLANCA AND SAFI
Anemia in pregnant women is influenced by age, antenatal care, and diet, with coffee increasing risk.
research Delayed diagnosis of Kearns-Sayre syndrome in a 38-year-old male patient: a case report.
A 38-year-old man was diagnosed late with Kearns-Sayre syndrome after being wrongly treated for epilepsy.
research Satoyoshi Syndrome: Difficult to find or treat?
Satoyoshi Syndrome is hard to diagnose and treat due to its rarity and complex symptoms.
research Iron Screening in Alopecia Areata Patients May Catch Hereditary Hemochromatosis Early
Screening for iron levels in patients with hair loss may help find a genetic iron overload condition early.
research Analysis of the relationship between the mutation site of the SLC39A4 gene and acrodermatitis enteropathica by reporting a rare Chinese twin: a case report and review of the literature
New mutations in the SLC39A4 gene found in twins help understand the genetic cause of acrodermatitis enteropathica.
research Pernicious anemia associated with autoimmune hemolytic anemia and alopecia areata
A 16-year-old boy had pernicious anemia, autoimmune hemolytic anemia, and later developed alopecia areata.
research PWE-049 Assessment of response and tolerance to oral iron supplements in patients with anaemia
Iron supplements help reduce fatigue in anaemia but often cause side effects like black stools and stomach issues.
research Pernicious anemia in a patient with Type 1 diabetes mellitus and alopecia areata universalis
Patients with Type 1 diabetes should be screened for pernicious anemia.
research A rare manifestation of STING-associated vasculopathy with onset in infancy: a case report
Early genetic testing and JAK inhibitors can help treat systemic inflammation in SAVI patients.
research De novo mutation in the mitochondrial tRNALeu(UUR) gene (A3243G) with rapid segregation resulting in MELAS in the offspring
A new mutation in the mitochondrial DNA was found in a boy with MELAS, even though his family didn't show typical signs.
research Segmented heterochromia in scalp hair
Iron therapy cured the boy's hair color issue.
research Scd1 ab-Xyk : a new asebia allele characterized by a CCC trinucleotide insertion in exon 5 of the stearoyl-CoA desaturase 1 gene in mouse
A new mouse mutation causes skin and hair defects due to a gene change.
research Delayed-Onset Hemolytic Anemia in Patients with Travel-Associated Severe Malaria Treated with Artesunate, France, 2011–2013
Artesunate is generally safe for severe malaria, but patients should be monitored for delayed anemia after treatment.
research Alopecia areata. How not to miss S atoyoshi syndrome?
Patients with alopecia areata should be checked for muscle spasms, diarrhea, and ANA to avoid missing Satoyoshi syndrome.
research Novel Mutation in the Hemojuvelin Gene (HJV) in a Patient with Juvenile Hemochromatosis Presenting with Insulin-dependent Diabetes Mellitus, Secondary Hypothyroidism and Hypogonadism
A new mutation in the HJV gene was found in a young woman with juvenile hemochromatosis, causing unusual symptoms like secondary hypothyroidism.
research Nonsynchronized segmented heterochromia in black scalp hair
A 14-year-old girl's black hair showed unique color changes, suggesting early greying.
research A missense mutation in the type II hair keratin hHb3 is associated with monilethrix
A mutation in the hHb3 gene is linked to the hair disorder monilethrix.
research Anaplasmosis concurrent with copper deficiency in a Salem Black kid
The young goat had anaplasmosis and copper deficiency.
research A 12‐year‐old boy with petechiae, arthralgias, and muscle weakness
The boy's scurvy symptoms improved with vitamin C treatment, highlighting the need for a balanced diet.
research Fatal autoimmunity results from the conditional deletion of Snai2 and Snai3
Deleting Snai2 and Snai3 causes fatal autoimmunity.
research Decreased selenium intake and low plasma selenium concentrations leading to clinical symptoms in a child with propionic acidaemia
Selenium deficiency caused symptoms in a child, which improved with selenium supplements.
research Hereditary vitamin D rickets: a case series in a family
Three siblings with a genetic form of rickets showed different symptoms of the disease.
research LB1020 Scurvy: A forgotten illness?
Scurvy still occurs today and can be diagnosed by symptoms like gum bleeding and a specific rash, confirmed by low vitamin C levels.
research Radiographic Findings of Shoulder Involvement in Ankylosing Spondylitis
The patient with Ankylosing Spondylitis had shoulder joint damage and bone changes.
research Segmented Heterochromia in Black Scalp Hair Associated With Iron-Deficiency Anemia
Iron deficiency can cause hair color changes, which can be reversed with iron supplements.
research PA05 A rare case of cardiocutaneous syndrome in a young child
A child with skin and tooth symptoms was found to have a genetic mutation causing cardiocutaneous syndrome, leading to heart problems.
research Beyond anemia: a comprehensive analysis of iron deficiency symptoms in women and their correlation with biomarkers
Iron deficiency causes many symptoms, and transferrin saturation is a better diagnostic marker than hemoglobin.
research Structural Abnormalities in the Hair of a Patient with a Novel Ribosomopathy
The patient's hair was thinner and had fewer lipids due to a genetic mutation.