30 citations
,
June 2016 in “Journal of Human Genetics” This study found pathogenic mutations in genes EDA, EDA1R, and EDARADD in 101 out of 124 hypohidrotic ectodermal dysplasia patients, revealing 23 novel mutations and indicating genetic variability.
7 citations
,
November 2017 in “Cureus” This report introduces a new potential sign, paired ear creases of the helix, which may have relevance to cardiovascular disease similar to diagonal ear lobe creases, in a case of coronary artery disease.
1 citations
,
June 2022 in “Chinese medical journal/Chinese Medical Journal” This study identified two novel mutations in the CDH3 gene causing HJMD in a Chinese patient, expanding the genetic and phenotypic understanding of the disorder.
October 2011 in “The American Journal of Gastroenterology” This study found that methadone use in HCV-infected male veterans was associated with a significant increase in the risk of advanced liver fibrosis.
This study found that overexpression of erythropoietin disrupted hair growth in mice by affecting dermal fat lipogenesis and lipolysis, leading to poor hair follicle development and truncal alopecia.
4 citations
,
September 2020 in “Journal of Mind and Medical Sciences” This review examines the spontaneous clearance of hepatitis C virus and factors such as IL-28B genetic polymorphism, which have been associated with this outcome, and reports no new clinical results.
July 2011 in “Oxford University Press eBooks” This chapter reviews the causes, diagnosis, and treatment of hirsutism and related androgen excess conditions in women, presenting no novel clinical findings.
7 citations
,
May 1983 in “Geburtshilfe und Frauenheilkunde” This study concluded that intramuscular administration of medium-dose cyproterone acetate with oral ethinylestradiol is highly effective in managing hirsutism, showing better response rates than high-dose oral treatment.
26 citations
,
October 1998 in “Experimental Dermatology” This study describes a co-dominant E410D mutation in keratin hHb6 associated with severe hair loss and extensive papules in homozygous individuals, with variable expression in heterozygous family members.
1 citations
,
January 2005 in “Chinese Journal of Hospital Pharmacy” This study developed a stable and reliable HPLC-ESI-MS method for determining finasteride levels in human plasma, suitable for pharmacokinetic studies.
September 2021 in “Fertility and sterility” In this study, daily administration of 100mg DHEA for 16 weeks in women with adequate ovarian reserve did not modify metabolic or reproductive variables, apart from increased antral follicular count and anti-Müllerian hormone levels.
27 citations
,
July 1997 in “PubMed” This study suggests that the harlequin ichthyosis mouse model closely resembles human type 2 harlequin ichthyosis, indicating its potential as a useful model for studying the human condition.
49 citations
,
December 2017 in “Journal of pharmaceutical and biomedical analysis” This study developed and validated a high-resolution mass spectrometry method to screen for prohibited substances and analyze six endogenous steroids in urine according to World Antidoping Agency requirements, demonstrating its effectiveness for antidoping analysis.
19 citations
,
March 1994 in “Fertility and sterility” This study found that treatment with a GnRH agonist and estrogen and progestin replacement significantly improved hirsutism scores and hair growth rates in women with polycystic ovarian disease.
7 citations
,
October 2020 in “Wiener medizinische Wochenschrift” This paper presents a case study of a 21-year-old male with thyroid hemiagenesis, where the left thyroid lobe and isthmus are absent, and discusses the anomaly's potential clinical consequences based on existing literature.
52 citations
,
October 1999 in “Developmental Dynamics” This study found that the hairless gene in mice has a more extensive role in development than previously thought, as indicated by its expression in various tissues and associated abnormalities in hr/hr mutants.
9 citations
,
July 2018 in “Current Pharmaceutical Design” This review discusses the importance of heme oxygenase in skin physiology and disease, but it reports no new clinical results; the authors highlight its potential as a treatment target for conditions like atopic dermatitis and psoriasis.
4 citations
,
January 1987 in “Journal of The American Academy of Dermatology” A man with both skin lesions and lung cancer improved quickly with chemotherapy, suggesting the skin condition might be a reaction to immune system injury.
29 citations
,
December 2017 in “Molecular therapy” This study found that enzyme replacement therapy in mice with a severe form of classical homocystinuria improved metabolic patterns and alleviated many clinical symptoms.
September 1976 in “PubMed” This article discusses the causes and treatments for hirsutism, concluding that reverse-sequence therapy with cyproterone acetate and ethinyl estradiol is effective for severe cases but has cost and side effects.
October 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” This study observed that recognizing herpetic infection in pemphigus patients can help avoid unnecessary changes in immunosuppressive treatments for lesions wrongly presumed treatment-resistant.
66 citations
,
April 1989 in “Alcoholism Clinical and Experimental Research” This study found that the ethanol patch test effectively indicates the ALDH phenotype in healthy Japanese individuals, suggesting its usefulness for future research.
2 citations
,
January 2016 in “Experimental Dermatology” This symposium updated participants on the latest advances in understanding and managing hidradenitis suppurativa, emphasizing the need for individualized treatment plans and highlighting recent progress in therapies and epidemiology.
October 2009 in “The American Journal of Gastroenterology” This report describes a case where selenium supplementation in excess may have led to toxic liver injury, suggesting that high-dose selenium can cause hepatic necrosis.
2 citations
,
January 2020 in “BioMed Research International” This study found that Phaeodactylum tricornutum extract enhanced hair follicle cell proliferation, indicated by increased keratin and ERK1/2 signaling, suggesting its potential for hair care applications.
This study found that mycophenolate mofetil was well tolerated and effective as a second-line treatment for autoimmune hepatitis in patients who were intolerant to azathioprine.
19 citations
,
August 2017 in “American journal of clinical dermatology” This analysis reports that hepatitis B surface protein antigen exposure is associated with an increased risk of alopecia areata.
24 citations
,
May 2006 in “Proceedings of the National Academy of Sciences of the United States of America” This study reported that heterozygosity for FHIT affects mice's susceptibility to spontaneous alopecia areata and to certain preneoplastic lesions induced by benzo[a]pyrene, but does not change how they respond to budesonide and N-acetyl-L-cysteine.
July 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” This study concluded that a new model of reconstructed human epidermis using keratinocytes from plucked hair follicles offers a less-invasive alternative to conventional skin-derived models for skin research.
126 citations
,
January 2001 in “World Journal of Surgery” This review discusses current treatment options for liver hydatidosis, noting the potential benefits and limitations of chemotherapy and highlighting the need for more clinical trials to prevent recurrent disease; it reports no new findings.