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We report here a case study of 17α-hydroxylase deficiency in a phenotypic girl with male karyotype (46,XY). We also review the relevant literature to deepen our understanding of the disease, reduce the rate of missed diagnosis, and emphasize that holistic management of this disease requires collaborative multidisciplinary teamwork.

A 14-year-old patient with a female phenotype visited the endocrinology department because of hypertension. The patient had primary amenorrhea and lacked secondary sexual characteristics. Initial laboratory evaluation revealed normal levels of electrolytes, a hypergonadotropic hypogonadal state with high progesterone and low testosterone levels, and a 46,XY karyotype. She was referred to the urology department for gonadectomy and transferred to the gynecological endocrine clinic. On the basis of the patient's medical history and genetic testing results, a diagnosis of 46,XY 17α-hydroxylase deficiency was made. The patient was provided with glucocorticoids, estrogens, metformin, and psychological support.

Patients with 17α-hydroxylase deficiency, a rare cause of congenital adrenal hyperplasia, should be treated by a multidisciplinary team. Relevant experts from different disciplines should set up a systematic and comprehensive individualized management plan to optimize the physical and mental health and quality of life of affected patients.

Patients with 17α-hydroxylase deficiency, a rare cause of congenital adrenal hyperplasia, should be treated by a multidisciplinary team. Relevant experts from different disciplines should set up a systematic and comprehensive individualized management plan to optimize the physical and mental health and quality of life of affected patients.We present a dissection of the patent ductus arteriosus and pulmonary artery for surgical repair utilising cardiopulmonary bypass in the setting of vein of Galen malformation. Several strategies were employed to attenuate the cerebral shunt including pH-stat, high cardiac index, restrictive venous drainage, continuous ventilation and deep hypothermic circulatory arrest. The patient recovered from surgery with no apparent neurological sequelae.

Semaphrin3A (Sema3A) was found to play a major role in immune regulation in autoimmune diseases and to be of importance in allergic disease. However, the effect of Sema3A on allergic rhinitis (AR) is not fully clear.

We sought to elucidate the effects of Sema3A on the regulation of dendritic cells (DCs) and naive CD4

T cells in AR.

The expression of Sema3A in nasal mucosa was measured by immunohistochemical staining and western blotting. Human peripheral blood mononuclear cells were separated by the Ficoll-Hypaque method. DCs and naive CD4

T cells were purified by magnetic selection. A human Sema3A Fc chimera was added to DCs and naive CD4

T cells in vitro to evaluate the effect of Sema3A on the function of DCs and T cells. Labeling T cells with CFSE was used to determine cell proliferation. Flow cytometry was used to detect the DC maturation markers (CD40 and CD83) and T helper 17 (Th17) and regulatory T cell (Treg) percentages. ELISA was used to detect the IL10, IL17, IL4, and IFNγ cytokine levels.

The expression of Sema3A in AR inferior turbinate tissue was lower than that in healthy control tissue. Compared with healthy control DCs, AR DCs showed decreased levels of the DC maturation markers CD40 and CD83 after Sema3A treatment. Furthermore, Sema3A decreased naive CD4

T cell proliferation in AR. DAPT inhibitor concentration In addition, Sema3A increased the percentage of Tregs but had no obvious effect on Th17 cells. Moreover, Sema3A significantly increased levels of IL10 and IFNγ, and decreased level of IL4, but had no obvious effect on level of IL17.

AR presented with low expression of Sema3A in nasal mucosa, and Sema3A could decrease DC maturation, T cell proliferation, and Treg polarization.

AR presented with low expression of Sema3A in nasal mucosa, and Sema3A could decrease DC maturation, T cell proliferation, and Treg polarization.

Meningoencephaloceles originating in the lateral recess of the sphenoid sinus can be difficult to access. Historically, the endoscopic transpterygoid approach was advocated, which carries additional morbidity given the dissection of the pterygopalatine fossa (PPF) contents to provide a direct line approach to the defect. Given our increased facility with angled endoscopes and instrumentation, we now approach this region in a less invasive manner.

We describe the endoscopic modified transpterygoid approach (MTPA), a quicker approach to the lateral sphenoid recess which preserves the PPF contents through a single nostril corridor.

In the MTPA, the face of the sphenoid and anterior junction of the pterygoid plates are removed, allowing for mobilization of the PPF contents with the periosteum intact. Angled instrumentation is then used to resect the meningoencephalocele and repair the skull base defect in the lateral recess. If increased exposure is needed, this can be gained by sacrificing the sphenopalatine artery and even the vidian nerve, although this is rarely required.

The MTPA obviates the need for PPF dissection and simplifies access to the lateral sphenoid recess while minimizing postoperative morbidity. This approach should be considered for accessing meningoencephaloceles and other benign lesions in this challenging location.

The MTPA obviates the need for PPF dissection and simplifies access to the lateral sphenoid recess while minimizing postoperative morbidity. This approach should be considered for accessing meningoencephaloceles and other benign lesions in this challenging location.Diaporthe species are the causal agents of melanose, stem-end rot and gummosis diseases of citrus. D. citri is the predominant species on different citrus varieties. These diseases exceedingly reduce quality and marketability of fresh fruits, especially melanose on fruits causes massive economic losses. The infection mechanisms of D. citri are still unclear and the genome sequence of D. citri has not been released. In order to systemically explore the interaction between citrus and D. citri, we sequenced the whole-genome of D. citri strain NFHF-8-4, which was isolated from a sample with melanose in Jiangxi Province. The NFHF-8-4 genome sequence will provide valuable information for studying the development process, infection process and resistance mechanisms to fungicides in D. citri.