Objective To investigate the current status of the diagnosis and treatment of insomnia and the clinical use of related drugs in primary medical institutions in Beijing， China through a survey. Methods A questionnaire survey and face-to-face interviews were used to conduct a stratified random sampling survey in primary medical institutions in 16 districts of Beijing. Results The primary medical institutions in Beijing played an important role in the long-term management of insomnia patients， and integrated traditional Chinese and Western medicine therapy is the main treatment paradigm for insomnia. The three most frequently used sedative-hypnotic drugs are estazolam， zolpidem tartrate. At present， there are still several issues in primary medical institutions， including a lack of training on sleep medicine and strict restrictions on the types of sedative-hypnotic drugs. Conclusion Primary medical institutions in Beijing play a significant role in the long-term management of insomnia patients. However， due to a lack of standardized and systematic training on sleep medicine and the limited types and quantities of sedative-hypnotic drugs， there are still difficulties in the standardized diagnosis and treatment of insomnia， as well as the presence of non-standardized use of sedative-hypnotic drugs.
Insomnia, Fatal Familial

Familial Adenomatous Polyposis (FAP) is a multi-tumoral syndrome that includes neoplasms in the duodenum, brain, pancreas and thyroid. The Cribriform Morular Variant (CMV) is a rare form of Papillary Thyroid Cancer seen in patients with FAP. Presented here is a 32 year old female who initially presented with an anterior neck mass followed years later by a rectal mass. She was diagnosed with FAP and colorectal adenocarcinoma and underwent total proctocolectomy with end ileostomy. She subsequently underwent a total thyroidectomy which revealed CMV Papillary Thyroid Carcinoma (CMV-PTC). Since FAP can have diverse presentations, a high index of suspicion is needed in order to make an earlier diagnosis to reduce potential morbidity and mortality. Papillary thyroid carcinoma can predate colonic polyposis. Identifying CMV-PTC early on can serve as an opportunity diagnose FAP early.

The paper reports one case of primary cutaneous amyloidosis (PCA) treated by tapping with plum-blossom needle combined with sulfur ointment and local irradiation. PCA in this case was manifested as generalized erythema, papules, plaques, lichenification, and severe pruritus. In treatment, tapping with plum-blossom needle was delivered at typical lesions to induce local congestion, redness, and minimal bleeding. After cleaned with sterile gauze for 10 s, 25% sulfur ointment was evenly applied, followed by local irradiation with a TDP lamp for 15 min. This session was repeated twice a week. In 1 month of treatment, the lesions turned flat and the skin was soft as the normal, with pigmentation and mild pruritus left. In 3 months of follow-up, no papules recurred, and mild pruritus presented occasionally.
Humans ; Ointments/administration & dosage* ; Sulfur/administration & dosage* ; Skin Diseases, Genetic/radiotherapy* ; Middle Aged ; Amyloidosis, Familial/radiotherapy* ; Male ; Acupuncture Therapy/instrumentation* ; Female ; Combined Modality Therapy

OBJECTIVES: Hypertrophic cardiomyopathy (HCM) frequently leads to myocardial ischemia and cardiac dysfunction. Even genotype-positive/phenotype-negative (G⁺/P^-) individuals, carriers of pathogenic sarcomere gene mutations without left ventricular hypertrophy, remain at risk of progression to clinical HCM. This study aims to evaluate myocardial perfusion and contractile function in familial HCM patients and their first-degree relatives using myocardial contrast echocardiography (MCE) and velocity vector imaging (VVI), in order to identify early myocardial dysfunction and at-risk individuals within families. METHODS: Thirty-five genetically confirmed HCM patients with left ventricular hypertrophy were assigned to a G⁺/P⁺ group. A total of 30 first-degree relatives carrying sarcomere mutations but without echocardiographic evidence of left ventricular hypertrophy were assigned to a G⁺/P^- group. A total of 38 age- and sex-matched gene-negative healthy family members served as controls. All participants underwent MCE and VVI assessments. Myocardial perfusion parameters, including peak intensity (PI), time to peak concentration (TP), and the ratio of declining intensity and declining time (dI/dT), as well as strain parameters including global longitudinal strain (GLS), global radial strain (GRS), and global circumferential strain (GCS) were recorded and analyzed for differences and correlations. RESULTS: Compared to both the G⁺/P^- and normal control groups, the G⁺/P⁺ group had significantly lower PI, dI/dT, GLS, and GRS, along with significantly increased TP (all P<0.05). GLS and GRS were positively correlated with PI (r=0.629 and r=0.613, respectively; both P<0.01) and negatively correlated with TP (r=-0.597 and r=-0.571, respectively; both P<0.01). Compared to the normal control group, the G⁺/P^- group showed a significant reduction in GLS (P<0.05), but no significant differences in GRS, GCS, PI, TP, or dI/dT (all P>0.05). CONCLUSIONS Myocardial contractile dysfunction in HCM patients is closely related to impaired perfusion. Even in the absence of wall hypertrophy, sarcomere mutation carriers show early signs of subclinical left ventricular dysfunction. MCE and VVI can quantitatively assess myocardial perfusion and function, offering valuable tools for early detection and risk stratification in HCM patients and their relatives.
Humans ; Male ; Female ; Myocardial Contraction/physiology* ; Echocardiography/methods* ; Adult ; Cardiomyopathy, Hypertrophic/genetics* ; Middle Aged ; Cardiomyopathy, Hypertrophic, Familial/genetics* ; Family ; Mutation

Hailey-Hailey Disease (HHD) is a rare, chronic skin condition characterized by relapsing episodes and spontaneous remissions, significantly affecting patients’ quality of life, especially in severe cases. Due to its rarity, there are no established evidence-based treatment guidelines or extensive clinical trials. This case report highlights the rapid improvement of HHD in a 55-year-old Filipino woman treated with a combination of 5-fluorouracil and excimer phototherapy, suggesting that this treatment approach may be an effective alternative for managing the disease.

Multiple Familial Trichoepithelioma (MFT) is a subtype of trichoepithelioma that begins during childhood as asymptomatic skin colored nodules predominantly on the central area of the face. It is a rare benign tumor of follicular differentiation associated with syndromic disorders and with mutations on the following genes: PTCH, 9p21 and CYLD. Overlap features between trichoepitheliomas and basal cell carcinomas may be present clinically and histopathologically. Hence, the importance of clinicopathologic differentiation between both as treatment options and prognosis varies.

We have a 52 year old male who presented with multiple asymptomatic, coalescent, flesh colored papules and nodules on the face and on the bilateral ears that started during childhood with gradual progression in size. Dermoscopy revealed thin arborizing vessels, milia-like cysts on a whitish background. History of similar lesions are noted among eight of his family members. Skin biopsies were taken on two nodules which showed tumor islands of basaloid cells with peripheral palisading, surrounded by fibrous stroma, characteristic papillary mesenchymal bodies and presence of keratin filled cysts. Genetic testing was advised and the planned course of action for the patient is to undergo ablative carbon dioxide laser combined with topical imiquimod cream to minimize recurrence.

This case highlights the relevance of multiple biopsy sites to rule out other differential diagnoses presenting with leonine facies and syndromic disorders associated with multiple familial trichoepitheliomas. Genetic testing is recommended but presumptive diagnosis may be made through positive family history, clinical and histopathologic features.

: Cerebral cavernous malformation (CCM) is a type of vascular malformations characterized by the absence of intervening brain parenchyma. Cerebral cavernous malformations are of two forms, sporadic and familial. About 0.4-0.8% of the population are affected as assessed based on Magnetic Resonance Imaging (MRI) findings and postmortem findings. Three genetic mutations have been identified: CCM1, CCM2, CCM3, with an incidence of 40%, 40% and 20%, respectively. : This study presents five members diagnosed with Familial CCM in a Filipino family. A 25-year-old male, from a low socio-economic background, was admitted due to a progressive generalized headache of 2 years’ duration, during which multiple brain lesions were observed on MRI. All members of the family became symptomatic before 30 years of age, and four out of the five members underwent surgery. However, molecular genetic testing was not performed as the patient could not afford it. The testing was not covered by the country’s insurance system, and it would have been an out-of-pocket expense. In patients diagnosed with cerebral cavernous malformations, a thorough clinical and family history is warranted accompanied by MRI-GRE (Magnetic Resonance Imaging Gradient Echo) and MRI T2 help establish final diagnosis. Confirmation with molecular genetic testing should be offered to all members of the family for proper neurological and genetic care.
Human ; Male,Female ; Adult: 25-44 yrs old ; Middle Aged: 45-64 yrs old ; Aged: 65-79 yrs old ; familial cerebral cavernous malformation

X-linked hypophosphatemia (XLH) is a rare disease of elevated fibroblast growth factor 23 (FGF23) production that leads to hypophosphatemia and impaired mineralization of bone and teeth. The clinical manifestations of XLH include a high prevalence of dental abscesses and periodontal disease, likely driven by poorly formed structures of the dentoalveolar complex, including the alveolar bone, cementum, dentin, and periodontal ligament. Our previous studies have demonstrated that sclerostin antibody (Scl-Ab) treatment improves phosphate homeostasis, and increases long bone mass, strength, and mineralization in the Hyp mouse model of XLH. In the current study, we investigated whether Scl-Ab impacts the dentoalveolar structures of Hyp mice. Male and female wild-type and Hyp littermates were injected with 25 mg·kg^-1 of vehicle or Scl-Ab twice weekly beginning at 12 weeks of age and euthanized at 20 weeks of age. Scl-Ab increased alveolar bone mass in both male and female mice and alveolar tissue mineral density in the male mice. The positive effects of Scl-Ab were consistent with an increase in the fraction of active (nonphosphorylated) β-catenin, dentin matrix protein 1 (DMP1) and osteopontin stained alveolar osteocytes. Scl-Ab had no effect on the mass and mineralization of dentin, enamel, acellular or cellular cementum. There was a nonsignificant trend toward increased periodontal ligament (PDL) attachment fraction within the Hyp mice. Additional PDL fiber structural parameters were not affected by Scl-Ab. The current study demonstrates that Scl-Ab can improve alveolar bone in adult Hyp mice.
Mice ; Male ; Female ; Animals ; Familial Hypophosphatemic Rickets/metabolism* ; Bone and Bones/metabolism* ; Tooth/metabolism* ; Periodontal Ligament/metabolism*

Elevated fibroblast growth factor 23 (FGF23) in X-linked hypophosphatemia (XLH) results in rickets and phosphate wasting, manifesting by severe bone and dental abnormalities. Burosumab, a FGF23-neutralizing antibody, an alternative to conventional treatment (phosphorus and active vitamin D analogs), showed significant improvement in the long bone phenotype. Here, we examined whether FGF23 antibody (FGF23-mAb) also improved the dentoalveolar features associated with XLH. Four-week-old male Hyp mice were injected weekly with 4 or 16 mg·kg^-1 of FGF23-mAb for 2 months and compared to wild-type (WT) and vehicle (PBS) treated Hyp mice (n = 3-7 mice). Micro-CT analyses showed that both doses of FGF23-mAb restored dentin/cementum volume and corrected the enlarged pulp volume in Hyp mice, the higher concentration resulting in a rescue similar to WT levels. FGF23-mAb treatment also improved alveolar bone volume fraction and mineral density compared to vehicle-treated ones. Histology revealed improved mineralization of the dentoalveolar tissues, with a decreased amount of osteoid, predentin and cementoid. Better periodontal ligament attachment was also observed, evidenced by restoration of the acellular cementum. These preclinical data were consistent with the retrospective analysis of two patients with XLH showing that burosumab treatment improved oral features. Taken together, our data show that the dentoalveolar tissues are greatly improved by FGF23-mAb treatment, heralding its benefit in clinics for dental abnormalities.
Humans ; Male ; Mice ; Animals ; Familial Hypophosphatemic Rickets/pathology* ; Fibroblast Growth Factor-23 ; Retrospective Studies ; Fibroblast Growth Factors/metabolism* ; Bone and Bones/metabolism* ; Phosphates/therapeutic use*

Objective: To summarize the clinical characteristics of tumour necrosis factor receptor-associated periodic syndrome (TRAPS) in children. Methods: The clinical manifestations, laboratory tests, genetic testing and follow-up of 10 children with TRAPS from May 2011 to May 2021 in 6 hospitals in China were retrospectively analyzed. Results: Among the 10 patients with TRAPS, including 8 boys and 2 girls. The age of onset was 2 (1, 5) years, the age of diagnosis was (8±4) years, and the time from onset to diagnosis was 3 (1, 7) years. A total of 7 types of TNFRSF1A gene variants were detected, including 5 paternal variations, 1 maternal variation and 4 de novo variations. Six children had a family history of related diseases. Clinical manifestations included recurrent fever in 10 cases, rash in 4 cases, abdominal pain in 6 cases, joint involvement in 6 cases, periorbital edema in 1 case, and myalgia in 4 cases. Two patients had hematological system involvement. The erythrocyte sedimentation rate and C-reactive protein were significantly increased in 10 cases. All patients were negative for autoantibodies. In the course of treatment, 5 cases were treated with glucocorticoids, 7 cases with immunosuppressants, and 7 cases with biological agents. Conclusions: TRAPS is clinically characterized by recurrent fever accompanied by joint, gastrointestinal, skin, and muscle involvement. Inflammatory markers are elevated, and autoantibodies are mostly negative. Treatment mainly involves glucocorticoids, immunosuppressants, and biological agents.
Male ; Child ; Female ; Humans ; Child, Preschool ; Receptors, Tumor Necrosis Factor, Type I/genetics* ; Retrospective Studies ; Hereditary Autoinflammatory Diseases/drug therapy* ; Glucocorticoids/therapeutic use* ; Biological Factors/therapeutic use* ; Immunosuppressive Agents/therapeutic use* ; Autoantibodies ; Familial Mediterranean Fever/diagnosis* ; Mutation