2017年 · 第97卷第27期

The patient, a 20-year-old male, unmarried, student, was seen on July 6, 2016 with "progressive enlargement of the end of the fingers and toes and the knee, ankle and wrist joints for 19 years". The patient's family members felt that the ends of the patient's fingers and toes were swollen and pestle-shaped since childhood (since the patient was 1 year old), and there was no joint swelling, deformity and mobility impairment at that time; Since then, the patient's fingers and toe ends showed progressive enlargement, and gradually showed progressive enlargement of knee joints, ankle joints and wrist joints, accompanied by inflexible movements. He had visited other hospitals many times and was considered "Kaschin-Beck disease" without special treatment. In the past 3 years, I felt that my left and right cheeks were asymmetric, my forehead increased progressively, and my facial skin was rough, which was not treated. In the past 3 months, I felt that bilateral knee, ankle and wrist joints were swollen and movement impaired more obviously than before, accompanied by local tenderness, which was aggravated when going up and down stairs, walking fast and running. Now I came to our hospital for further diagnosis and treatment, and was admitted to the hospital with "pachydermal periosteal disease". Full-term natural birth, height and weight were not measured at birth. He has been slightly taller than his peers since childhood. Unmarried and childless. There were no abnormalities in the family history, and the parents were not intimate married. Physical examination: blood pressure 119/76 mmHg (1 mmHg =0.133 kPa), height 174 cm and weight 51 kg. The forehead skin is thickened, the facial skin is rough, the hair is thick, the hair is hard, and the distribution is normal. The ends of the limbs are enlarged, showing pestle-shaped fingers and toes, the joints of both knees and wrists are enlarged, the joints of both ankles are enlarged with tenderness, and the movement is limited, and the muscle strength and tone of the limbs are normal (Figure 1)。 Laboratory tests: Plasma sedimentation rate was 45 mm/h and C-reactive protein (CRP) was 24.4 mg/L. The levels of growth hormone, corticotropic hormone (ACTH) rhythm, cortisol rhythm, thyroid function and parathyroid hormone were normal. No abnormalities were observed except estradiol (107 ng/L). Rheumatoid factor, anti-O antibody and anti-cyclic citrulline peptide antibody were normal. X-rays showed that the periosteum of bilateral distal tibia and fibula and bilateral proximal radius was thickened and rough, the bone density was loose, and the trabecular bone was sparse (Figure 2)。 The genetic test results showed that the patient's hydroxyprost gene (HPGD) had two heterozygous mutations: (1) the first base sequence changed from adenine to guanine, and the corresponding amino acid mutated from methionine to valine (c.1A>G; P.M1V); (2) Homozygous deletion of cytosine and thymine at 310 and 311 base sequences occurred (c.310-311 CT). These two mutation sites were from the mother and the father, respectively: the mother carried the c.1A>G (P.M1V) mutation and the father carried the c.310_311CT, but both phenotypes were normal (Figure 3)。 The initial diagnosis was as follows: (1) Thick skin and thick periosteum syndrome (complete type); (2) Osteoporosis. During hospitalization, the patient was given "diclofenac sodium 50 mg twice daily; calcium carbonate D3 600 mg twice daily; alfacalcidol 0.25 μ g twice daily; ranitidine hydrochloride 0.15 g twice daily". The swelling and inflexibility of the joints were improved, and local tenderness was relieved. The above-mentioned drug treatment was continued outside the hospital, and the patient was followed up 3 or 6 months after discharge. The flexibility of joint movement was acceptable, and no joint swelling and pain occurred again.

The patient was a 25-year-old female. One month ago, there was no obvious trigger for intermittent chest tightness and palpitation, which was paroxysmal, mostly after activity, and could be relieved after rest. Not accompanied by nausea, vomiting, syncope, etc. during attack. No history of hypertension or heart disease. The electrocardiogram in the local hospital showed atrial fibrillation, and no special treatment was performed. In order to seek further treatment, he came to our hospital, and the outpatient clinic was admitted to the cardiology department with "atrial fibrillation". The heart rate was 108 beats/min, the rhythm was absolutely irregular, the intensity of heart sounds varied, no murmur was heard in the auscultation area of each valve, and there was no pericardial friction sound. Imaging examination: Ultrasound findings: A medium and low echo mass with a size of 43 mm ×40 mm can be accessed between the junction of the left and right atrial apices and in front of the descending aorta, with clear boundaries and uneven internal echoes (Figure 1)。 CT showed a massive soft tissue density shadow below the left atrium of the posterior mediastinum, about 56 mm ×46 mm ×35 mm (Figure 2), moderate enhancement after enhancement, uneven density, and no swollen lymph nodes were seen in the mediastinum and under the axilla. MRI showed a space-occupying lesion in the posterior inferior of the left atrium (anterior to the spine), at T₁WI is isosignaled (Figure 3), T₂WI showed a heterogeneous slightly high signal shadow (Figure 4), the boundary is still clear, the size is about 45 mm ×41 mm ×33 mm, and the adjacent left and right atrium are compressed. Enhancement showed that the first perfusion of the posterior and inferior lesion of the left atrium showed the entry of contrast medium, and delayed enhancement showed that the parenchyma of the lesion showed a strip-like mild enhancement (Figure 5)。 Imaging diagnostic opinion: benign space-occupying lesion of the mediastinum. Surgery and pathology: Thoracoscopic right thoracic cavity exploration was performed. There were no adhesions in the right thoracic cavity and no pleural effusion during the operation. A mass with a diameter of 40 mm ×40 mm ×50 mm was seen in the posterior mediastinal pericardium, which was hard in texture, closely related to the left atrium, and the boundary was unclear. He was transferred to the cardiac surgery department and underwent posterior mediastinal space-occupying resection. Intraoperative results showed that there was no pericardial adhesion, and the mediastinal space was located below the right inferior pulmonary vein, the left posterior of the inferior vena cava and the left atrium. The size is 30 mm ×40 mm ×50 mm, and the occupied outer envelope is complete, elastic and soft. Pathological examination: macroscopic observation: a piece of gray-red gray-yellow tissue, 60 mm ×30 mm ×35 mm in size, gray-red gray-yellow soft cut surface, intact envelope. Microscopically: pericardial spindle cell tumor (Figure 6), consistent with perivascular epithelioid cell tumor (PEComa). Immunohistochemistry: CK (-), S-100 (-), Collagen-IV (-), Nestin (-), EMA (-), CD57 (-), GFAP (-), CgA (-), CD56 (+), HMB45 (+), CD34 (vascular +), PR (-), Ki-67 (1% +), Desmin (+), TFE-3 (-), MelanA (-), Myogenin (-), MyoD1 (-), Caldesmon (+), SMA (+), SOX (-), MSA (+).

Low back pain caused by intervertebral disc degeneration (IVDD) is the most common spinal disorder^[1]。 Studies have stated that low back pain caused by IVDD affects about 80% of the global population^[2]It is also one of the main reasons for the limited labor capacity of people aged 20~50^[3]。 In the United States, up to $500 billion is spent annually on low back pain^[4]。 With the arrival of global population aging, the incidence of IVDD is increasing, which seriously affects people's work and daily life, and is a serious socio-economic problem^[5]。 The occurrence of IVDD is a complex process including many factors (such as aging, overweight, trauma, smoking, diabetes, genetic factors, etc.)^[6]The mechanism of its degeneration is still unclear^[7]。 Studies have shown that acidic environment has a certain effect on intervertebral disk degeneration^[8]。 Intervertebral disc cells are very sensitive to changes in the acidic environment of extracellular matrix. In certain acidic environment, the synthesis rate of extracellular matrix decreases and the degradation rate increases^[9]If you are in this environment for a long time, the disc cells will die^[10]。 The research progress on how intervertebral disc cells sense the changes of extracellular acidic environment and thus discal degeneration is reviewed below.

Intrauterine adhesion (IUA), also known AS Asherman syndrome (AS), is a common endometrial damage disease. In the last 30 years, the incidence of intrauterine adhesions has increased year by year, which has attracted more and more attention. Its clinical manifestations are amenorrhea or thin menstruation, infertility, repeated miscarriage and other pregnancy complications. Although intrauterine adhesion separation and hormone therapy have achieved certain curative effects, the overall therapeutic effect is not good. Stem cells have shown good clinical application because of their potential of multidirectional differentiation and self-renewal. Numerous studies have shown that mesenchymal stem cells can be used for the repair of endometrial damage. The research progress of various mesenchymal stem cells on endometrial damage repair in intrauterine adhesions and the advantages and disadvantages of clinical application are reviewed as follows.