We report the clinical course from birth to adolescence of a patient carrying a compound heterozygous variation in the ectonucleotide pyrophosphatase/phosphodiesterase family member 1(ENPP1) gene. The patient was diagnosed with generalized arterial calcification of infancy shortly after birth, and subsequently with autosomal recessive hypophosphatemic rickets type 2 at the age of 11 years. Following effective blood pressure control, treatment with neutral phosphate, calcitriol, and vitamin D was initiated. During follow-up, no progression of vascular calcification was observed. Through this case report and a review of relevant literature, we aim to enhance clinicians′ understanding of this rare condition.

AIM: To evaluate the effectiveness and safety of compound anisodine combined with laser photocoagulation in the treatment of diabetic retinopathy(DR).METHODS: A prospective cohort study was used to select 80 patients(160 eyes)diagnosed with severe non-proliferative diabetic retinopathy(NPDR)and proliferative diabetic retinopathy(PDR)in Beijing Tongren Hospital, Capital MedTcal University and Beijing Daxing District People's Hospital from May 2023 to July 2023. They were divided into control group(40 cases, 80 eyes)and observation group(40 cases, 80 eyes)by random number table method. The control group only received 532 nm laser panretinal photocoagulation(PRP)treatment, while the observation group received PRP treatment together with superficial temporal subcutaneous injection of compound anisodine. The clinical efficacy, changes in hemorheology, changes in retinal blood vessels, and incidence of adverse reactions in the two groups were observed before and at 2 mo after treatment.RESULTS: The visual acuity, fundus changes and hemorheological parameters of the two groups were analyzed before and after treatment. There were no significant differences in the two groups before treatment(all P>0.05). The best corrected visual acuity of the observation group was better than that of the control group at 2 mo after treatment(P<0.05), and the clinical curative effect of fundus was also better than that of the control group(all P<0.05). The hemorheological indexes of central retinal artery blood flow(peak systolic velocity and end diastolic velocity)in the observation group were higher than those of the control group(all P<0.05), and the blood flow resistance index was lower than that of the control group(P<0.05).CONCLUSION: Compound anisodine combined with 532 nm laser photocoagulation is safe and effective in the treatment of DR, and the visual recovery effect is better.

Hereditary angioedema (HAE) is a rare genetic disorder, typically managed with on-demand medications during acute attacks. Clinical trials and real-world studies have demonstrated the efficacy and safety of icatibant in treating acute HAE attacks. This article aims to summarize research findings on icatibant in HAE treatment, providing a reference for its clinical application.

We report the clinical course from birth to adolescence of a patient carrying a compound heterozygous variation in the ectonucleotide pyrophosphatase/phosphodiesterase family member 1(ENPP1) gene. The patient was diagnosed with generalized arterial calcification of infancy shortly after birth, and subsequently with autosomal recessive hypophosphatemic rickets type 2 at the age of 11 years. Following effective blood pressure control, treatment with neutral phosphate, calcitriol, and vitamin D was initiated. During follow-up, no progression of vascular calcification was observed. Through this case report and a review of relevant literature, we aim to enhance clinicians′ understanding of this rare condition.

Objective:To analyze the clinical and genetic characteristics of congenital hypogonadotropic hypogonadism (CHH) in boys.Methods:Cross-sectional study.Clinical data, laboratory data and genetic results of boys who were genetically diagnosed with CHH at the Department of Endocrinology of Shenzhen Children′s Hospital from December 2019 to February 2023 were collected in this retrospective study.Their clinical manifestations, hormone levels and gene mutations were analyzed.The non-normal distribution was represented by the median.The rank sum test was used to compare the non-normal distribution data between the two groups.Results:A total of 27 boys were genetically diagnosed with CHH, with the age at first diagnosis ranging from 0.3 to 16.6 years old.All these children presented with micropenis (100%), of whom 16 were complicated with cryptorchidism (59.3%), 9 with microrchidia (33.3%), 7 with simple micropenis (25.9%), and no had simple cryptorchidism.Three children had cardiovascular dysplasia.The median of basal luteinizing hormone(LH) level was 0.09 IU/L, and 92.5%(25/27) of children had the basal LH level below 1.00 IU/L.The median of peak LH level after gonadotropin-releasing hormone(GnRH) stimulation was 1.42 IU/L, and 96.2%(26/27) of children had the peak LH level below 4.00 IU/L.The median of serum inhibin B was 41.15 μg/L, and the median of serum anti-Müllerian hormone(AMH) was 12.62 mg/L.The serum AMH level of children with cryptorchidism was significantly lower than that of children without cryptorchidism (10.02 mg/L vs.50.50 mg/L, P<0.05). A total of 12 gene mutations were detected in the 27 children, of which 1 was biallelic mutation.The most common gene mutations were in CHD7 and ANOS1 genes (7 children each, both accounting for 51.8%), followed by FGFR1 gene (3 children, 11.1%). After short-term treatment by GnRH pump or subcutaneous injection of recombinant human follicle stimulating hormone in 4 children, the levels of serum inhibin B and AMH increased significantly, and the testicular volume also increased. Conclusions:CHH is a congenital disease with different clinical manifestations at different ages.The main manifestations in childhood are micropenis and cryptorchidism, and some children have microrchidia.Its diagnosis in prepuberty is difficult, but genetic testing is of great significance for early diagnosis.

To summarize the clinical manifestations of a case with 46, XY sex development disorder caused by myelin regulatory factor(MYRF) gene mutation and review the literature to deepen the specialists′ understanding of the clinical disease spectrum resulting from MYRF gene variations. The child had a female phenotype with mild masculinity, chromosome 46, XY, sex-determining region of Y gene(SRY gene) positive, laboratory tests were consistent with primary hypogonadism, ultrasound did not detect the gonads, but the residual reproductive tract was visible, and echocardiography suggested coarctation of the aorta, MYRF gene c. 2518C>T(p.R840*) heterozygous variant. The father did not carry this variant. The mother was untraceable, and genetic testing had not been completed. It was analyzed as pathogenic variation according to American College of Medical Genetics and Genomics(ACMG) guidelines. Sixteen cases of disorders of sex development caused by MYRF gene variation reported from 2018 to 2021 were reviewed, MYRF gene variants, 46, XY, and 46, XX individuals can be pathogenic, can affect the gonad and reproductive tract at the same time, and can also affect multiple systems. In this case, the patient presents with 46, XY sex development disorder due to MYRF gene mutation, accompanied by rare cardiovascular complications. When encountering 46, XY primary hypogonadism without well-developed Müllerian duct structures, this condition should be considered. Following confirmation, a comprehensive assessment of multi-organ function is necessary.

Objective:To report embryonic testicular regression syndrome(ETRS) caused by DHX37 heterozygous variant for the first time in China and summarize the clinical manifestations of ETRS as to improve the understanding of doctors for this disease.Methods:The clinical data and whole exome sequencing results of five cases of ETRS from Shenzhen Children′s Hospital were collected. The reported cases of DHX37 heterozygous variant were reviewed.Results:Five patients with ETRS visited the doctors at the age of 2 months to 5 years and 5 months. Three patients raised as males came to hospital due to virilition and 2 female patients visited a doctor due to clitoral hypertrophy. No uterus was detected by ultrasound in all patients. The gonadal pathologies from 4 cases displayed no testicular tissue or gonadal dysgenesis, complicated with gonadoblastoma in one case. The genetic testing revealed that the heterozygous variant(c.923G>A, p. R308Q) in DHX37 was found in 2 cases, without variant in other 3 cases. According to the review, ETRS and 46, XY gonadal dysgenesis due to DHX37 herozygous variant was firstly reported in 2019. A total of 40 cases, including 21 cases of ETRS, presented with the virilition or female phenotype, with the disappearance of testicular tissue as the main pathologies. There is no report in China.Conclusion:The article summarized the clinical manifestations and whole exome sequencing results of 5 patients with ETRS, among which two cases were caused by DHX37 variants and one was complicated with gonadoblastoma.

Congenital hydrocephalus is a major neurological disorder with high rates of morbidity and mortality; however, the underlying cellular and molecular mechanisms remain largely unknown. Reproducible animal models mirroring both embryonic and postnatal hydrocephalus are also limited. Here, we describe a new mouse model of congenital hydrocephalus through knockout of β-catenin in Nkx2.1-expressing regional neural progenitors. Progressive ventriculomegaly and an enlarged brain were consistently observed in knockout mice from embryonic day 12.5 through to adulthood. Transcriptome profiling revealed severe dysfunctions in progenitor maintenance in the ventricular zone and therefore in cilium biogenesis after β-catenin knockout. Histological analyses also revealed an aberrant neuronal layout in both the ventral and dorsal telencephalon in hydrocephalic mice at both embryonic and postnatal stages. Thus, knockout of β-catenin in regional neural progenitors leads to congenital hydrocephalus and provides a reproducible animal model for studying pathological changes and developing therapeutic interventions for this devastating disease.
Animals ; Disease Models, Animal ; Hydrocephalus/genetics* ; Mice ; Mice, Knockout ; Neurons ; beta Catenin/genetics*

Objective:Based on the current medical environment, to learn about cognition status of doctor-patient relationship among medical students and analyze causes of the tension between doctors and patients.Methods:Using the self-designed questionnaire "Clinical Medical Students' Cognition Survey on Occupational Status and Doctor-Patient Relationship", a cross-sectional survey was conducted on 527 medical students from 5-year and 7-year clinical program in Batch 2014 in a medical university in Heilongjiang Province. The survey mainly analyzed the causes of the tension between doctors and patients from the level of medical staff, patients and their families, hospitals and society. SPSS 22.0 was used for descriptive statistics and chi-square test.Results:The results showed that 93.7% of the medical students believed that the current doctor-patient relationship was not harmonious. There were cognitive differences among medical students in different gender ( P=0.029), first contact clinical grade ( P=0.003) and professional identity ( P<0.001). Conclusion:Medical students have a poor evaluation towards the current doctor-patient relationship. In order to construct harmonious doctor-patient relationship in the future, we can try to take measures such as carrying out relevant courses of doctor-patient communication, improving the medical students' communication skills and enhancing their professional identity.