BACKGROUND

Polycystic ovarian syndrome (PCOS) is a common gynecologic endocrine disorder affecting between 2.2% and 26% of the population. It is typically characterized by hirsutism and signs of ovulatory dysfunction. Hirsutism is defined as the presence of excess body or facial terminal hair growth in females, following a male-like pattern. It is diagnosed using visual assessment methods, such as the modified Ferriman–Gallwey (mFG) scoring system, and biochemical tests, including measurements of total testosterone (tT) and the free androgen index (FAI).

The general objective of the study is to identify the correlation of visual scoring with the biochemical evaluation of hirsutism. Specific objectives include (1) to describe the visual and biochemical scores of hirsutism in PCOS patients and (2) to determine a cutoff score for the visual scoring of hirsutism among Filipinos.

This is a cross-sectional study done in a tertiary hospital. Ethical approval was obtained for this study. Patients who satisfied the inclusion criteria were included in the study. Age, height, weight, body mass index (BMI), and OB score were noted. Visual scoring for hirsutism using the mFG scoring system was performed. Blood extraction was done for testosterone and sex hormone-binding globulin tests. FAI was then computed and correlated with the mFG scores.

A total of 52 patients were identified. A positive correlation is noted between the mFG with testosterone and FAI. A positive correlation was also noted between the BMI with testosterone and FAI. An mFG value of >4 is an acceptable cutoff for Filipinos.

The study showed as the mFG score increases, FAI and tT levels also increase. It was also noted that as BMI increases, the FAI and tT levels are also expected to increase. It can also be concluded that a lower mFG cutoff value, >4, is applicable for Filipinos.

Steroid cell tumors occur in <0.1% of all ovarian tumors, and steroid cell tumors, not otherwise specified occur in 80% of those steroid cell tumor cases. In the Philippines, there is only one published case of a steroid cell tumor, not otherwise specified. This is a case of a 25-year-old nulligravid, who manifested with heavy menstrual bleeding accompanied by hirsutism, and deepening of the voice. Ultrasound revealed the left ovary with a well-circumscribed, hypoechoic solid mass, measuring 36.8 mm × 34 mm × 32.1 mm with benign features on the International Ovarian Tumor Analysis. The patient underwent a left salpingo-oophorectomy with frozen section. Final histopathology showed a steroid cell tumor, not otherwise specified. Prompt surveillance and increasing awareness of steroid cell tumors, especially those that manifest with abnormal uterine bleeding and virilization, may initiate prompt and proper management that can have an impact on the quality of life of the patient.

BACKGROUND: Research has indicated that the disease burden of alopecia areata (AA) in China exceeds the global average. Therefore, accurate and updated epidemiological information is crucial for policymakers. In this study, we aimed to comprehensively assess the disease burden of AA in China. METHODS: The following four key indicators were utilized: the prevalence of cases; disability-adjusted life-years (DALYs); the age-standardized prevalence rate (ASPR); and the age-standardized DALY rate (ASDR) of AA according to the Global Burden of Disease (GBD) study 2021. We analyzed the epidemiological burden of AA in China during 2021, examined changes between 1990 and 2021, and performed a Bayesian age-period-cohort analysis to predict trends over the course of the next decade (2022-2030). Additionally, a Gaussian process regression model was applied to estimate the relationship between the gross domestic product (GDP) and the ASPR and ASDR of AA at the provincial level between 1992 and 2021. RESULTS: In 2021, the estimated number of patients with AA in China was approximately 3.49 million (95% uncertainty interval [UI], 3.37-3.62 million); of these patients, 1.20 million (95% UI, 1.16-1.25 million) were male and 2.29 million (95% UI, 2.20-2.37 million) were female. This large number of patients with AA resulted in a total of 114,431.25 DALYs (95% UI, 74,780.27-160,318.96 DALYs). Additionally, the ASPR and ASDR were 224.61 per 100,000 population (95% UI, 216.73-232.65 per 100,000 population) and 7.41 per 100,000 population (95% UI, 4.85-10.44 per 100,000 population), respectively; both of these rates were higher than the global averages. The most affected demographic groups were young and female individuals 25-39 years of age. Slight regional disparities were observed, with the northern and central regions of China bearing comparatively higher burdens. Between 1990 and 2021, the health loss and disease burden caused by AA in China remained relatively stable. The ASPR and ASDR of AA increased with the GDP when the annual GDP was less than 2 trillion Chinese yuan; however, a downward trend was observed as the GDP surpassed 2 trillion Chinese yuan. A slight upward trend in the disease burden of AA in China is predicted to occur over the next decade. CONCLUSIONS AA continues to be a public health concern in China that shows no signs of declining. Targeted efforts for young individuals and females are necessary because they experience a disproportionately high burden of AA.
Humans ; China/epidemiology* ; Alopecia Areata/epidemiology* ; Global Burden of Disease ; Female ; Male ; Adult ; Disability-Adjusted Life Years ; Middle Aged ; Prevalence ; Adolescent ; Young Adult ; Bayes Theorem ; Child ; Quality-Adjusted Life Years ; Child, Preschool

As an indispensable trace element in the human body,copper plays an important role in various physiological and biochemical reactions.The dyshomeostasis of copper leads to the disorder of copper metabolism and the occurrence of related diseases.Cuproptosis,a newly proposed regulatory cell death mode,is different from the known apoptosis,pyroptosis,necroptosis,and ferroptosis.Recent studies have found that the dyshomeostasis of copper has been observed in a variety of cancers.Therefore,targeting copper for disease treatment may become a new strategy and a new idea.This article systematically summarizes the fundamental properties of copper,copper dyshomeostasis-related diseases (Menkes syndrome,Wilson's disease,and cancer) and their treatment,and reviews the research progress in cuproptosis.
Humans ; Copper/metabolism* ; Homeostasis ; Neoplasms/metabolism* ; Hepatolenticular Degeneration/metabolism* ; Menkes Kinky Hair Syndrome/metabolism*

Alopecia resulting from radiation exposure occurs 2-8 weeks after exposure. It can be temporary or permanent depending on the dose of exposure. Alopecia following fluoroscopy-guided procedures are increasing in frequency. We report the case of a 22-year-old female who underwent fluoroscopically-guided embolization of an arteriovenous malformation. Twelve days after embolization, significant hair shedding was noted, resulting in a large rectangular hairless patch with no erythema or pain on the irradiated site. Hair pull test was positive and the hair mount showed dystrophic anagen hairs. Hair tug test was negative. Trichoscopy showed yellow dots, black dots, vellus hairs, and flame hairs. Histopathologic examination showed an increase in catagen and telogen hairs. On review of the procedure, she received a total peak skin dose of 4.67 Gray from the procedure. The diagnosis of radiation-induced alopecia was made and topical minoxidil was started, resulting in complete hair growth after six months. Patients undergoing fluoroscopy-guided procedures should have adequate follow-up weeks to months post-procedure to monitor for skin and hair reactions. Physicians should also consider delayed radiation reactions in patients with a history of radiation exposure. Safety protocols must be in place, and measures should be done to minimize the dose delivered.

Alopecia areata with ophiasis has a worldwide prevalence of only 0.02%. In the last ten years, only 10 cases have been reported in the Philippines. This variant is often resistant to treatment. Novel therapeutic options are being explored, although these are frequently limited to case reports due to the rarity of the disease. Newer therapies, such as JAKSTAT inhibitors and monoclonal antibodies, show promise as effective options for ophiasis-type alopecia areata.

Langerhans cell histiocytosis (LCH) is an inflammatory myeloid neoplasia affecting children 2-5 years old. The clinical presentation ranges from self-resolving localized disease to fulminant, fatal disseminated disease. While the most common presentation of LCH are small, translucent crusted papules on the trunk, intertriginous areas, and scalp, it may present as crusted plaques and alopecia. A 3-year-old male presented with a 4-month history of solitary, well-defined, hyperpigmented plaque with yellow-brown crust on the left parieto-occipital area of the scalp measuring 1.5 x 1.5 cm and a solitary, well-defined, hairless patch with areas of erythema on the left parieto-occipital area measuring 5.0 x 6.0 cm. Scalp biopsy revealed diffuse collection of lymphohistiocytes interspersed with distinct kidney bean-shaped cells. CD1a is positive for cells of interest. Skeletal survey revealed lytic lesions involving the skull, thoracic cage, spine, pelvis, and upper and lower extremities. The rest of the physical examination findings revealed lymphadenopathy, crackles, globular abdomen with right and left upper quadrant dullness. The patient had episodes of fever, difficulty of breathing, and abdominal pain. The patient received chemotherapy as multisystem LCH based on prednisone and vinblastine. Following 3 courses of chemotherapy, there is noted hair regrowth and sloughing off of crust.

OBJECTIVE: To explore the clinical characteristics and variants of ATP7A gene in a child with Menkes disease. METHODS: A child with Menkes disease diagnosed at the West China Second Hospital of Sichuan University and its family members in March 2022 was selected as the study subjects. Clinical manifestations and results of laboratory tests and genetic testing were summarized. RESULTS: The main manifestations of the child included seizures, global development delay, facial dysmorphism, sparse and curly hair, increased lactate and pyruvate, and significantly decreased cuprin. EEG showed frequent issuance of multifocal spikes, spines, polyspines (slow) and polymorphic slow waves. Multiple tortuous vascular shadows were observed on cranial MRI. Whole exome sequencing revealed that the child has harbored a hemizygous c.3076delA (p.ile1026*) variant of the ATP7A gene, which was inherited from his mother. The variant may lead to premature termination of protein translation. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was predicted as pathogenic (PVS1+PM2+PP4). CONCLUSION The c.3076delA (p.Ile1026*) variant of the ATP7A gene probably underlay the Menkes disease in this child. Above finding has provided evidence for clinical diagnosis. The significantly increased lactic acid and pyruvate can be used as a reference for the diagnosis and management of Menkes disease. Microscopic abnormalities in the hair of the carriers may also facilitate their diagnosis.
Child ; Humans ; Copper-Transporting ATPases/genetics* ; East Asian People ; Menkes Kinky Hair Syndrome/genetics* ; Mutation ; Pedigree ; Peptide Fragments ; Pyruvic Acid

Female ; Humans ; Intellectual Disability ; Hypertrichosis ; Amenorrhea

OBJECTIVE: To determine the expression level of Sonic hedgehog (Shh) in the passage of hair follicle stem cells (HFSCs), analyze the effect of Shh overexpression on the proliferation activity of HFSCs, and explore the survival of HFSCs after Shh overexpression and its effect on hair follicle regeneration. METHODS: Hair follicles from the normal area (H1 group) and alopecia area (H2 group) of the scalp donated by 20 female alopecia patients aged 40-50 years old were taken, and the middle part of the hair follicle was cut under the microscope to culture, and the primary HFSCs were obtained and passaged; the positive markers (CD29, CD71) and negative marker (CD34) on the surface of the fourth generation HFSCs were identified by flow cytometry. The two groups of HFSCs were transfected with Shh-overexpressed lentivirus. Flow cytometry and cell counting kit 8 assay were used to detect the cell cycle changes and cell proliferation of HFSCs before and after transfection, respectively. Then the HFSCs transfected with Shh lentivirus were transplanted subcutaneously into the back of nude mice as the experimental group, and the same amount of saline was injected as the control group. At 5 weeks after cell transplantation, the expression of Shh protein in the back skin tissue of nude mice was detected by Western blot. HE staining and immunofluorescence staining were used to compare the number of hair follicles and the survival of HFSCs between groups. RESULTS: The isolated and cultured cells were fusiform and firmly attached to the wall; flow cytometry showed that CD29 and CD71 were highly expressed on the surface of the cells, while CD34 was lowly expressed, suggesting that the cultured cells were HFSCs. The results of real-time fluorescence quantitative PCR and Western blot showed that the expression levels of Shh protein and gene in the 4th, 7th, and 10th passages of cells in H1 and H2 groups decreased gradually with the prolongation of culture time in vitro. After overexpression of Shh, the proliferation activity of HFSCs in the two groups was significantly higher than that in the blank group (not transfected with lentivirus) and the negative control group (transfected with negative control lentivirus), and the proliferation activity of HFSCs in H1 group was significantly higher than that in H2 group before and after transfection, showing significant differences ( P<0.05). At 5 weeks after cell transplantation, Shh protein was stably expressed in the dorsal skin of each experimental group; the number of hair follicles and the expression levels of HFSCs markers (CD71, cytokeratin 15) in each experimental group were significantly higher than those in the control group, and the number of hair follicles and the expression levels of HFSCs markers in H1 group were significantly higher than those in H2 group, and the differences were significant ( P<0.05). CONCLUSION Lentivirus-mediated Shh can be successfully transfected into HFSCs, the proliferation activity of HFSCs significantly increase after overexpression of Shh, which can secrete and express Shh continuously and stably, and promote hair follicle regeneration by combining the advantages of stem cells and Shh.
Animals ; Female ; Mice ; Alopecia/surgery* ; Hair Follicle ; Hedgehog Proteins/genetics* ; Mice, Nude ; Regeneration ; Stem Cells