Objective: To explore the key points of diagnosis and treatment of familial Mediterranean fever(FMF). Method: The clinical data of 3 cases with FMF misdiagnosed as Juvenile idiopathic arthritis(JIA)seen from January 2014 to June 2016 in Peking Union Medical College Hospital were retrospectively collected. The clinical manifestations, gene mutation characteristics, treatment and prognosis were also evaluated. Result: Two cases were male and 1 was female. The mean age of onset was 17 months (3 months to 36 months), while the average age of diagnosis was 6 years and 8 months (24 months to 11 years). All the 3 cases presented with periodic fever, red rash and arthritis.Two of them suffered from anemia, 2 of them showed lymphadenopathy, and 1 of them presented with hepatosplenomegaly. All of the 3 cases were diagnosed as JIA by excluding infectious diseases and neoplastic diseases and respondiug poorly to anti-infection treatment, but they benefitted little from glucocorticoids and a variety of immunosuppressive therapy. The mutations of MEFV gene were found in 3 cases by gene detection, and all of them were complex heterozygous mutations. Four reported pathogenic mutations were found: R202Q, E148Q, L110P, P369S. All the 3 cases are currently receiving oral colchicine (in accordance with the initial dose of children under the age of 5 recommended ≤ 0.5 mg/d, 5 to 10 years old children 0.5-1.0 mg/d, 10 years old children and older children 1.0-1.5 mg / d) , and the symptoms were significantly improved. Conclusion The familial Mediterranean fever can be characterized by repeated remittent fever, red rash, arthritis, and is easy to be confused with JIA in clinical manifestation.In this paper, 3 cases were diagnosed as complex heterozygous MEFV gene mutation by gene analysis.During the 6 months follow-up, all of the 3 patients responded well to colchicine.

NLRP12 is a member of the NOD-like receptors family in innate immune system,and plays an important role on resistance to intracellular pathogens.Once being activated,NLRP12 could recruit and combine with its downstream effector proteins into inflammasome,thus involving in pathogen clearance.Meanwhile,NLRP12 is one of the several anti-inflammatory molecules in the NOD-like receptors family.In this review,its structure,tissue distribution,function and association with diseases were discussed.

Objective:To study the clinical features of transthyretin amyloid polyneuropathy (ATTR-PN) caused by Ser77Tyr mutation.Methods:The clinical data of a patient with ATTR-PN caused by Ser77Tyr mutation, admitted to our hospital from Department of Neurology, Mindong Hospital Affiliated to Fujian Medical University, were retrospectively analyzed. Literature on patients with ATTR-PN caused by Ser77Tyr mutation in Pubmed, Web of Science, CNKI and Wanfang databases and those with ATTR-PN caused by Val30Met mutation in Pubmed and Web of Science were searched and screened, and clinical characteristics of these patients were extracted. The differences of clinical characteristics among patients with ATTR-PN caused by Ser77Tyr or Val30Met mutations were compared.Results:(1) Transthyroxin ( TTR) gene Sanger sequencing results showed Ser77Tyr heterozygous pathogenic mutation; Congo red staining of biopsy sample in the patient 2.5 years after onset showed amyloid deposition. (2) Seventy-eight patients with ATTR-PN caused by Ser77Tyr mutation were summarized, they mostly had onset at 50-60 years old; male patients had higher incidence (74.4%); most patients (78.0%) had positive family history; most patients had sensory symptoms as initial symptom (72.0%), which gradually progressed to extensive peripheral nerve involvement and combined with widespread heart damage (96.4%) over several years; electrophysiological examination mainly showed axonal damage and carpal tunnel syndrome; the tissue biopsy had high positive rate(84.8%). (3) There were 192 and 96 patients with ATTR-PN caused by early-onset and late-onset Val30Met mutations, respectively; compared with patients with ATTR-PN caused by early-onset Val30Met mutation, patients with ATTR-PN caused by Ser77Tyr mutation had significantly higher incidence of deep sensory disturbance (28.6% vs. 58.5%, P<0.05). Compared with patients with ATTR-PN caused by late-onset Val30Met mutation, patients with ATTR-PN caused by Ser77Tyr mutation had increased incidence of mild sensory disturbance (56.3% vs. 75.0%) and decreased incidence of limb weakness (65.6% vs. 48.3%), with significant differences ( P<0.05). ATTR-PN patients caused by Ser77Tyr mutation had significantly higher incidence of carpal tunnel syndrome than ATTR-PN patients caused by early-onset and late-onset Val30Met mutations (75.4% vs. 10.8% and 25.0%) and significantly higher incidence of cardiac damage than ATTR-PN patients caused by early-onset Val30Met mutation (96.4% vs. 80.5%, P<0.05). Conclusion:Ser77Tyr mutation has some distinctive clinical features: relatively balanced damage of large and small fibers, prominent carpal tunnel syndrome, and obvious heart disease; early identification of these features and administration of tissue biopsy and gene detection are helpful for early diagnosis.

Objective: To analyze the clinical characteristics of spondyloenchondrodysplasia with immune dysregulation (SPENCDI). Methods: The clinical manifestations, laboratory examinations, treatment and genetic analysis of a patient diagnosed with SPENCDI who was admitted to the Department of Pediatrics in Peking Union Medical College Hospital in October 2016 were analyzed. Then literature review was done after searching articles in PubMed and several Chinese databases with the key words "spondyloenchondrodysplasia with immune dysregulation" up to the date of November 2017. Results: A 12-year-old girl was admitted to local hospital for complaint of "recurrent fever over one month" in October 2016. She was diagnosed with type Ⅱ autoimmune hepatitis for abnormal liver function, elevated immunoglobulin G, positive anti-liver-kidney microsomal antibody and medium to severe interface hepatitis verified by liver biopsy. Systemic lupus erythematosus was also suspected based on positive antinuclear antibody and anti-dsDNA antibody, decreased complements, reduced white blood cells and hemoglobin. Methylprednisolone and azathioprine were started based on the diagnosis. However, she experienced mycoplasma pneumoniae and suspected fungal infections during the treatment. Detailed history revealed the history of developmental retardation since birth, and cerebral palsy diagnosed when she was 2 years old. She also underwent surgery at the age of eight for eversion of her right foot. Based on the abnormal findings of immune system, skeleton and nervous system, certain primary immunodeficiency disease was speculated. Gene sequencing was performed, which revealed compound heterozygous mutations in ACP5 gene (NM_001111035.2) (c.798dupC, p. S267Lfs*20, paternal; c.716G>A, p. G239D, maternal). With X-ray of the vertebrae showed multiple platyspondyly, the diagnosis was corrected as SPENCDI and type Ⅱ autoimmune hepatitis. Then she was treated with prednisone (60 mg/d) and mycophenolate mofetil (1.5 g/d). All symptoms resolved on 3-month follow-up, with normalized activity indexes of autoimmune hepatitis and systemic lupus erythematosus. A total of 25 articles (1 Chinese, 24 English) were reviewed, with 74 SPENCDI patients reported. The most common manifestations were skeletal abnormalities (74/74, 100%), autoimmune diseases (47/74, 63.5%), dwarfism (45/74, 60.8%), and nervous system symptoms (25/74, 33.8%). A few patients with simple spondyloenchondrodysplasia were treated with growth hormone, and those who with autoimmune diseases were treated with immunosuppressants, all of whom were improved to certain extent. Conclusions Vertebral and metaphyseal dysplasia, nervous system symptoms, and strong predisposition to autoimmune diseases are the hallmarks of SPENCDI. SPENCDI should be considered in dwarf with or without autoimmune diseases or nervous system symptoms.

Objective:To study the clinical characteristics and risk factors of nephrocalcinosis in preterm infants.Methods:From March 2021 to August 2021, all preterm infants admitted to NICU of our hospital were retrospectively analyzed. The infants were assigned into nephrocalcinosis group and non-nephrocalcinosis group according to urinary tract ultrasound. Clinical data including gestational age, birth weight(BW), nutritional support strategy and complications were reviewed.Results:A total of 40 preterm infants (<34 weeks) were enrolled. 9 cases were in the nephrocalcinosis group and 31 cases in the non-nephrocalcinosis group. The nephrocalcinosis group had lower BW[(1 167±214) g vs.(1 586±215) g], higher calcium [6.9 (5.1, 8.7) g vs.3.3 (2.1, 6.8) g] and vitamin D intake [3.2(2.5, 4.2)×10 4U vs.1.7(1.1, 3.2)×10 4U] during hospitalization. No significant differences existed between the two groups on the following items:blood calcium and phosphate, 25-hydroxyvitamin D, feeding strategy, time to reach full enteral feeding(TFF), furosemide dosage and respiratory support duration ( P>0.05). In the nephrocalcinosis group, the median age of diagnosing nephrocalcinosis was 40.0(30.0, 52.5)d after birth. 5 cases showed bilateral nephrocalcinosis. 5 cases in the nephrocalcinosis group received renal tubule function examination,4 cases had increased urine β2 microglobulin and 2 cases had increased urine α1 microglobulin. 7 cases had elevated urine calcium in the nephrocalcinosis group. Follow-up showed that nephrocalcinosis disappeared 3-9 months after birth. Conclusions:BW, total calcium and vitamin D intake are risk factors for nephrocalcinosis in preterm infants. Increased urine β2 microglobulin and calcium levels are common co-morbidities in preterm infants with nephrocalcinosis.

Objective:To explore the feasibility in reconstruction of the muscular power with the superficial part of lateral femoral muscle through anatomical study on the superficial region of lateral femoral muscle.Methods:Studies on 4 sides of lower limbs of 2 cadaver specimen were conducted in the Department of Hand and Foot Microsurgery of Xi'an Fengcheng Hospital. Intraoperative observations and measurements were further carried out on 21 sides of 21 patients. Muscular fascia in superficial region, muscular gross morphology, thickness, length and width of muscles, length of muscle fibres and pinnate angles of muscle surface were observed and measured. Both blood vessels and nerves in the muscle were separated to measured.Results:The superficial region of lateral femoral muscle was in a shape of fusiform and started from the greater trochanter and ended at the patella and rectus femoris, with the fascia at proximal end and the muscle of distal end. The inferior muscle fibres of the fascia were arranged in sequence and ended at the deep fascia from proximal to distal. Mean muscle thickness was measured at 1.96 cm±0.48 cm, and mean pinnate angle was of 18.9°±3.3°. The superficial region was found being distributed by the descending branches of lateral circumflex femoral artery(LCFA) and the second branch of femoral nerve, and they accompanied each other. At 5.0 cm from the point of entry to the muscle, the diameter of the vessels was measured at 2.39 mm±0.52 mm, and the diameter of nerves was at 2.64 mm±0.61 mm. Both of arteries and nerves further branched out anteriorly and posteriorly in 1.0-1.5 cm intervals after having entered the muscle. At 0 - 2.5 cm away from the muscle entry point, a larger branch was often running posteriorly into the muscle, and this branch appears on all 4-sided specimens. While the occurrence rate in the 21 sides of patients observed in operations was of 90.5%, with a transverse diameter at 1.23 mm±0.28 mm.Conclusion:The superficial region of lateral femoral muscle is dominated by independent vessels and nerves and there are many branches from superior vessels and nerves, which form an anatomical basis for one or more muscular flaps.

Acute respiratory tract infection is the most common infectious disease in children, which seriously threatens children′s health.Rapid and accurate etiological diagnosis is of great significance for the clinical treatment and control of these diseases.Pathogen nucleic acid test was applied and became the main method of respiratory tract infection diagnosis for its high sensitivity and specificity.To regulate the application of pathogen nucleic acid amplification test in respiratory tract infection in children, improve the diagnosis level, expert consensus on nucleic acid amplification test of respiratory pathogens in children was prepared to guide the application and promote pathogens diagnosis ability.

Objective: To summarize the clinical characteristics of patients with haploinsufficiency of A20 (HA20). Methods: The clinical manifestations, laboratory examinations, treatment, outcome and genetic analysis of 4 cases with HA20 hospitalized in Peking Union Medical College Hospital were analysed.Further literature review was done after searching articles in PubMed and Wangfang databases with the key words "HA20" "A20 haploinsufficiency" "TNFAIP3" up to the date of September 2019. Results: The 4 patients were a father and a daughter, as well as a mother and a daughter. Their phenotypes were quite variable, but all of them have been suffering from recurrent oral ulcer since childhood. Elevation of C-reactive protein (13-33 mg/L) and erythrocyte sedimentation rate (21-60 mm/1h) were found in these 4 patients, and there was positive antinuclear antibody in proband 1.The father in pedigree 1 and the 2 patients in pedigrees 2 have been diagnosed with Behçet disease and the proband 1 with undifferentiated connective tissue disease. The 2 patients in pedigree 1 have developed Hashimoto′s thyroiditis. After gene sequencing analysis, it was found that all the 4 patients have heterozygous nonsense mutations in TNFAIP3 gene, that is, c.811C>T, p.R271X in pedigree 1 and c.133C>T, p.R45X in pedigree 2.The diagnosis of HA20 was eventually established when sequencing results and their clinical manifestations were both compatible with this disease.A total of 21 articles were retrieved, all in English, with a total of 91 cases from 39 families (including the 4 cases reported in this paper). HA20 was reported more often in female (57, 64.8%). Most patients develop symptoms from childhood, but as many as 53.4% (47 cases) are not correctly diagnosed until adulthood. Oral ulcers, genital ulcers, periodic fever, gastrointestinal symptoms, rashes, and arthritis are the primary manifestations.Hashimoto′s thyroiditis is the most common autoimmune diseases that HA20 patients coexist with. Laboratory tests were characterized by significantly elevated inflammatory markers and low to moderate titers of autoantibodies in some patients.Most HA20 patients were reported to have nonsense mutations or shift mutations of TNFAIP3 gene, which leads to truncation of A20 protein, and only a small number of patients have missense mutation. In terms of treatment, anti-TNF treatment and anti-interleukin 1 is believed to be an effective and the most optimal therapy. The treatment effect is variable and requires long term observations. Conclusions The clinical phenotypes of HA20 are complex. For patients with both autoinflammatory and autoimmune characteristics, family history should be inquired in detail and gene sequencing should be performed if necessary.

A 15-year-old female was referred to the hospital with intermittent fever, where multiple systemic abnormalities were found, such as splenomegaly, secondary hypersplenism, retinitis pigmentosa, and ectodermal dysplasia. Medical history revealed that she had suffered recurrent respiratory infections, blurred vision at night, and dysplasia of teeth and nail beds since childhood. Then she was suspected to be experiencing ROSAH syndrome, a rare disease newly recognized in recent years, which was finally confirmed by gene sequencing results. During a course of treatment with tumor necrosis factor inhibitors, recurrent fever with elevated inflammatory markers reappeared, and the child developed headaches. To guide the comprehensive treatment and improve the patient's quality of life, the multidisciplinary team in Peking Union Medical College Hospital discussed together and directed the following treatment.