research Abstracts
Get head MRI for babies with achondroplasia early, use free immunoglobulin light chains to detect certain neurodevelopmental disorders, and video calls work for speech therapy in patients with facial anomalies.
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research Structure and Development of the Skin and Cutaneous Appendages
Understanding skin structure and development helps diagnose and treat skin disorders.
research Abstracts of 42nd National Conference of Association of Clinical Biochemists of India (ACBICON 2015)
The conference presented findings on how vitamin D levels, genetic factors, and lifestyle choices like smoking and yoga affect various health conditions and diseases.
research The Cat With Alopecia
Cats lose fur due to various reasons, including allergies, infections, genetics, hormones, diet, cancer, stress, and some conditions are treatable while others are not.
research Clinical Exome Sequencing Unveils the Genetic Landscape of Polycystic Ovarian Syndrome Focusing on Lean and Obese Phenotypes: Implications for Cost-Effective Diagnosis and Personalized Treatment
Young women in West Bengal, India, with PCOS often have estrogen resistance, leptin receptor issues, folate deficiency, T2DM, and acanthosis, commonly linked to obesity.
research Multi-Ancestry Tandem Repeat Association Study of Hair Color Using Exome-Wide Sequencing
Tandem repeats significantly influence hair color, especially darker shades, across different ancestries.
research Type A Insulin Resistance Syndrome Due to a Novel Heterozygous c.3486_3503del (p. Arg1163_Ala1168del) INSR Gene Mutation in an Adolescent Girl and Her Mother
A new gene mutation causes insulin resistance in a girl and her mother.
research Advances in the Treatment of Autosomal Recessive Congenital Ichthyosis: A Look Towards the Repositioning of Drugs
Drug repositioning offers hope for new, affordable treatments for a genetic skin disorder called ARCI.
research Localized Hypotrichosis Type 1 Due to Intragenic Deletion of Exons 5-8 in Desmoglein Gene in a Neonate from Indian Family
A baby from an Indian family had a rare genetic disorder causing no scalp or body hair due to a specific gene deletion.
research Clinical Case of Alopecia Totalis in Pediatric Practice
An 11-year-old child with total hair loss may have a genetic autoimmune disease, and the outlook for hair regrowth is not good.
research Critical Evaluation of the Concept of Genetics in Ayurveda with Special Reference to Eight Undesired Body Types (Ashta Nindit)
Ayurveda's descriptions of genetic disorders align with modern genetic understanding.
research Recent Advances in the Genetics of Alopecia Areata
New research has found 14 genes linked to the risk of developing alopecia areata, improving understanding and treatment options.
research The Laboratory in the Multidisciplinary Diagnosis of Differences or Disorders of Sex Development (DSD)
Diagnosing sex development disorders requires combining medical history, physical exams, imaging, lab tests, and genetic data.
research Abstracts
New treatments and diagnostic methods for various animal skin conditions showed promising results.
research Unusual Systemic Lupus Erythematosus/Sjogren's Syndrome Phenotype in a Patient with a TNFAIP3 Gene Mutation
A TNFAIP3 gene mutation can cause unusual and varied symptoms of lupus and Sjogren's syndrome.
research Acne-Associated Syndromes
Acne is linked to inflammation and insulin resistance, and is associated with various syndromes that require different treatments.
research Role of Fibroblast DPP4 in Wound Healing, Scarring, and Regeneration
DPP4 is important for scarring and skin regeneration, and managing its activity could improve skin healing treatments.
research Dynamic Morphogen-p63 Chromatin Interactions That Guide Epigenetic Changes and p63 Activity in Surface Ectoderm Commitment
The study found that p63 needs signals from morphogens to help skin cells differentiate properly.
research Genetic Defects of Female Sexual Differentiation
Genetic mutations can affect female sexual development, requiring personalized medical care.
research Advances in Cosmetic Dermatology
The book provides an overview of new trends and techniques in cosmetic dermatology.
research Montagna Symposium 2015: Harnessing Stem Cells to Reveal Novel Skin Biology and Disease Treatments
The symposium showed that stem cells are key for understanding and treating skin diseases and for developing new skin models and therapies.
research Acknowledging the Clinical Heterogeneity of Lupus Erythematosus
Lupus is a complex disease that requires personalized treatment because it varies greatly between individuals.
research Syndromes of Severe Insulin Resistance
The document concludes that Syndromes of Severe Insulin Resistance are rare disorders with limited treatment options.
research Characterization of Novel TMEM173 Mutation Causing a Lupus- and SAVI-Like Phenotype, Modified by Polymorphisms in TMEM173 and IFIH1
A new mutation in the STING protein causes a disease with lupus-like symptoms and responds well to a specific inhibitor treatment.
research A Kindred With Mutant IKAROS and Autoimmunity
A mutation in the IKZF1 gene causes immune system overactivity, linked to autoimmune diseases like lupus.
research Approach to Androgen Excess in Women: Clinical and Biochemical Insights
The document concludes that a systematic approach is crucial to identify causes of androgen excess in women beyond the most common cause, Polycystic ovary syndrome (PCOS).
research Wound Healing Impairment in Type 2 Diabetes Model of Leptin-Deficient Mice: A Mechanistic Systematic Review
Leptin-deficient mice, used as a model for Type 2 Diabetes, have delayed wound healing due to impaired contraction and other dysfunctional cellular responses.
research Development of Woolly Hair and Hairlessness in a CRISPR-Engineered Mutant Mouse Model with KRT71 Mutations
Researchers made a mouse model with curly hair and hair loss by editing a gene.
research Clinical and Immunological Phenotype of Patients With Primary Immunodeficiency Due to Damaging Mutations in NFKB2
Damaging mutations in NFKB2 cause a severe and distinct form of primary immunodeficiency with early-onset and often ACTH-deficiency.
research Fertility Evaluation of Infertile Women: A Committee Opinion
The conclusion is that women under 35 should start fertility checks after 12 months of trying to conceive, women over 35 after 6 months, and women over 40 should start immediately. The checks should include ovulation status, reproductive tract structure, and male partner's semen evaluation.