research Case report: Acrodermatitis enteropathica result from a novel SLC39A4 gene mutation
A girl with skin rashes and low zinc levels improved with zinc supplements and had new gene mutations linked to her condition.
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research Diagnostic Signs and Symptoms of Cyanocobalamin Deficiency at Rural Setting in India: Novel Method of Supplementation
Adding vitamin B12 to food like salt can effectively improve vitamin levels in rural areas.
research Age-related changes in the dorsal skin histology in Mini and Wistar rats.
Mini rats have thinner skin, more fat, and different hair cycles than Wistar rats due to lower growth hormone levels.
research Enhancing diagnostic yield of monogenic diabetes through phenotypic and molecular reanalysis of 128 individuals with young onset hyperglycemia: highlighting the significance of accurate case characterization
Combining genetic and physical trait analysis improves diagnosis accuracy for monogenic diabetes.
research Lentiginous melanoma. A clinically malignant entity that histopathologically seems benign. Case study harbouring BRAF V 600R mutation
A clinically suspected melanoma appeared benign under the microscope but was confirmed by specific tests and a rare mutation.
research Enterococcus faecium secreted the NlpC/P60 family protein to enhance host immunity and indirectly increases Akkermansia muciniphila for slowing aging
Enterococcus faecium broth may slow aging and improve health by boosting immunity and gut bacteria.
research Pathology in Practice
A 7-year-old dog with a rare autoimmune disease was euthanized due to severe anemia and poor prognosis.
research Case of Waldenstrom Macroglobulinaemia Mimicking Multiple Myeloma: A Diagnostic Challenge
Waldenstrom’s Macroglobulinaemia can mimic multiple myeloma, so accurate diagnosis is crucial.
research Netherton Syndrome Associated with Growth Hormone Deficiency
Growth hormone therapy can improve growth in Netherton syndrome patients with growth hormone deficiency.
research An infant with congenital micrognathia and upper airway obstruction was diagnosed as Hutchinson-Gilford progeria syndrome caused by a novel LMNA mutation: Case report and literature review
An infant with Hutchinson-Gilford Progeria Syndrome had successful surgery to fix breathing issues caused by a new genetic mutation.
research 559 Induction of tissue-specific premature stem cell aging promotes senescence-like phenotypes in remote multiple organs
Aging in one type of stem cell can cause aging-like changes in various organs.
research Heterozygous Arrhythmogenic Cardiomyopathy-desmoplakin Mutation Carriers Exhibit a Subclinical Cutaneous Phenotype with Cell Membrane Disruption and Lack of Intercellular Adhesion
Carriers of a specific gene mutation have subtle skin changes without visible symptoms.
research Effet de la consommation de régimes carencés en iode ou contenant de substances goitrigènes ou supposées sur la croissance pondérale de rats Wistar
Iodine-deficient diets and antithyroid substances affected rat growth and behavior, but most adapted with positive weight gain.
research A Clinical Study on Cutaneous Manifestations of Obesity
Obesity significantly affects skin health, causing conditions like acanthosis nigricans and skin tags, and should be considered during skin exams.
research Hutchinson-Gilford progeria syndrome - A brief introduction
Hutchinson-Gilford Progeria Syndrome caused rapid aging due to a genetic mutation, with treatments to manage symptoms.
research Acrodermatitis enteropathica – a diagnostic challenge: case report of late-onset, genetically proven disease with normal zinc serum levels
Accurate diagnosis and zinc supplements can improve life quality in acrodermatitis enteropathica, even with normal zinc levels.
research Unusual Cause of Chronic Diarrhea: Cronkhite-Canada Syndrome
Cronkhite-Canada syndrome causes chronic diarrhea and has a poor prognosis despite treatment.
research Alterations in Methionine Cycle and Wnt/MAPK Signaling Associated with HMBi-Induced Cashmere Growth in Goats
HMBi supplementation boosts cashmere growth by affecting specific metabolic and signaling pathways in goats.
research Case Report: A Deletion Variant in the DCAF17 Gene Underlying Woodhouse-Sakati Syndrome in a Chinese Consanguineous Family
A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.
research KASUS RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA-MITIS YANG TERDIAGNOSIS PADA SAAT LANJUT USIA
Accurate diagnosis of RDEB-mitis in older adults is crucial for proper management without immunosuppressants.
research Cutaneous scedosporiosis
A fungal skin infection was successfully treated with medication and compression therapy.
research Prenatal diagnosis of a fetus harboring an intermediate load of the A3243G mtDNA mutation in a maternal carrier diagnosed with MELAS syndrome
Prenatal genetic diagnosis may not predict MELAS syndrome severity in offspring.
research Anaemia and skin disease
Some skin diseases and anaemia are related, and treating the skin condition can often improve the anaemia.
research Novel de novo pathogenic variant in the ODC1 gene in a girl with developmental delay, alopecia, and dysmorphic features
A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.
research Glycogen phase separation drives macromolecular rearrangement and asymmetric division in E. coli
Glycogen helps E. coli cells divide unevenly and organize their contents.
research Granzyme B in skin aging, injury and repair
Granzyme B accelerates skin aging and impairs healing by breaking down important skin components.
research Alopecia Areata Developing in Non-Insulin Dependent Diabetes Mellitus Type-2, an Autoimmune Disease
A woman with type 2 diabetes developed alopecia areata, suggesting a link between the two autoimmune conditions.
research Physical inactivity is a disease synonymous for a non-permissive brain disorder
Physical inactivity is a primary cause of many human illnesses.
research Seventy-five-year-old man with unexplained weight loss and alopecia
A 75-year-old man lost weight, hair, and nails due to severe stomach and intestine inflammation.
research A Rare Case of Cronkhite-Canada Syndrome
Early diagnosis and nutritional support are crucial for managing Cronkhite-Canada Syndrome.