OBJECTIVE: To analyze the genetic etiology of a Chinese pedigree affected with short stature. METHODS: A child with familial short stature (FSS) who had presented at the Ningbo Women and Children's Hospital in July 2020 and his parents and paternal and maternal grandparents were selected as the study subject. Clinical data of the pedigree was collected, and the proband was subjected to routine growth and development assessment. Peripheral blood samples were collected. The proband was subjected to whole exome sequencing (WES), and the proband, his parents and grandparents were subjected to chromosomal microarray analysis (CMA). RESULTS: The height of the proband and his father was 87.7cm (-3 s) and 152 cm (-3.39 s) respectively. Both of them were found to harbor a 15q25.3-q26.1 microdeletion, which has encompassed the whole of the ACAN gene which is closely associated with short stature. The CMA results of his mother and grandparents were all negative, and above deletion has not been included in population database and related literature, and was rated as pathogenic based on the guidelines from the American College of Medical Genetics and Genomics (ACMG). After 14 months of rhGH treatment, the height of the proband has increased to 98.5 cm (-2.07 s). CONCLUSION The 15q25.3-q26.1 microdeletion probably underlay the FSS, in this pedigree. Short-term rhGH treatment can effectively improve the height of the affected individuals.
Child ; Female ; Humans ; Male ; Aggrecans/genetics* ; Dwarfism/genetics* ; East Asian People ; Mutation ; Pedigree

Objective To analyze the basic characteristics and variation trend of death causes of permanent residents in Enshi City during 2013-2018, to assess the burden of different diseases, and to provide a scientific basis for formulating disease prevention and control strategies. Methods The death monitoring data of permanent residents in Enshi City, Hubei Province from 2013 to 2018 was collected. The crude mortality, standardized mortality, life expectancy, potential years of life loss (PYLL), standard potential years of life loss (SPYLL), average years of life lost (AYLL), and annual percentage change (APC) were calculated to describe the distribution and trend of death causes. Results The average annual crude death rate and standardized death rate of residents in Enshi City from 2013 to 2018 were 679.43 per 100 000 and 615.02 per 100 000, respectively. The top 5 causes of death were circulatory system diseases, respiratory system diseases, malignant tumors, injuries, and digestive system diseases, accounting for 91.2% of the total deaths. Analysis of life expectancy found that the average life expectancy of local residents from 2013 to 2018 was 78.02 years, and the value in the male group (75.57 years) was lower than that in the female group (80.78 years). Life loss analysis revealed that PYLL caused by various diseases was 171 620 person-years, SPYLL was 171 284.62 person-years, and AYLL was 15.03 years/person in Enshi City from 2013 to 2018. Among all the death causes, the top five in terms of life loss were injuries, malignant tumors, circulatory diseases, respiratory diseases and digestive diseases. Conclusion From 2013 to 2018, the death rate of residents in Enshi City was relatively higher compared with those in other cities in China, the average annual crude death rate was on the rise, and the average annual standardized death rate was on the decline, indicating a highly ageing region. Chronic diseases such as circulatory system diseases, malignant tumors, and respiratory diseases, as well as injuries were the main death causes and caused a heavy burden of diseases, which should be the focus of future prevention and control work. Considering the higher levels of death and life loss indicators of male residents than those of women, targeted prevention and control measures should be taken to narrow the gap between men and women and improve the overall life quality of the whole population.

objective:To observe the effect of high-flow nasal cannula (HFNC) oxygen therapy on patients with acute respiratory failure after gastrointestinal operation under general anesthesia and its efficacy on prognosis.Methods:Totally 107 patients with acute respiratory failure after gastrointestinal operation under general anesthesia in ICU of our hospital were selected from January 2017 to June 2019. Patients were randomly divided into the HFNC group ( n=57) and non-invasive ventilation (NIV) group ( n=50). The changes of pH, PaO 2, PaCO 2, PaO 2/FiO 2, SpO 2, heart rate (HR), respiration rate (RR), and intra-abdominal pressure (IAP) before and after oxygen treatment were compared. The differences of comfort level, duration of oxygen treatment, re-intubation rate, 48-h pulmonary infection rate, incidence of anastomotic fistula, length of stay in ICU, length of hospital stay, hospitalization cost, and 28-day mortality were compared between the two groups. The t test of two independent samples was used for the comparison of normal measurement data. Non-normal data were expressed by median (quartile), fractional count data by case number (percentage), and comparison between the two groups by Chi-square test. Results:PaO 2, PaCO 2, PaO 2/FiO 2 and SpO 2 were not significantly different after 2-h oxygen therapy. PH of the HFNC group was lower than that of the NIV group (7.39 ± 0.04 vs. 7.42 ± 0.03), PaO 2, PaCO 2, PaO 2/FiO 2 and SpO 2 were higher than that of the NIV group [ (89.22 ± 8.70) vs. (84.99± 9.76) mmHg, (41.3 ± 3.43) vs. (39.34 ± 4.21) mmHg, (250.07 ± 18.34) vs. (237.89±19.38) mmHg, (96.14 ± 2.19) vs. (94.78 ± 2.76)%, P <0.05]; pH, PaO 2, PaCO 2, PaO 2 /FiO 2 and SpO 2 were significantly higher in the HFNC group than those in the NIV group [ (7.39 ± 0.04) vs. (7.36 ± 0.04) ; (97.2 ± 12.45) vs. (93.82 ± 12.54) mmHg; (40.84 ± 5.22) vs. (45.10 ± 6.40) mmHg; (277.16 ± 13.98) vs. (248.86 ± 12.81) mmHg, (98.14 ± 1.64)% vs. (95.48 ± 2.71) %] after 12 h oxygen treatment. The HR, RR and IAP of the HFNC group were lower than those of the NIV group, and the differences were statistically significant ( P <0.05). The duration of oxygen therapy in the HFNC group was shorter than that in the NIV group [(32.01 ± 7.57) vs. (40.88 ± 8.89) h], the reintubation rate was lower than that in the NIV group (1.75% vs. 12%), the pulmonary infection rate within 48 h oxygen therapy was lower than that in the NIV group (8.78% vs.30%), and the length of stay in ICU was shorter than that in the NIV group [(5.61 ± 1.73) vs. (7.60 ± 2.31) d], and the hospitalization cost was lower than that in the NIV group ( t = 4.822, P <0. 05). Conclusions:HFNC can improve the oxygenation index of patients with hypoxemia after gastrointestinal operation under general anesthesia, reduce oxygen treatment time, reduced reintubation rate, reduce pulmonary infection rate within 48 h, and improve the prognosis.

Objective To investigate the clinical features,pathogenesis,diagnosis and treatment of neonatal cerebral infarction(NCI)in order to have a further understanding of its clinical features,to enhance therapeutic effica﹣cy and to improve prognosis. Methods The clinical history,head magnetic resonance imaging( MRI)+ diffusion Weighted imaging(DWI)data and folloW－up results of 39 neonates With NCI admitted into the Department of Neonato﹣logy,Gaozhou People＇s Hospital and the Second Affiliated Hospital of Shantou University Medical College from January 2013 to March 2018 Were retrospectively analyzed. Results All the 39 children Were diagnosed as NCI by MRI +DWI,among Which 30 cases(76. 92%)Were full－term infants,and 9 cases(23. 08%)Were premature infants,in Which 61. 54%(24／39 cases)Were males,and 17 cases(43. 59%)Were performed With emergency cesarean section because of umbilical cord around neck,intrauterine distress or maternal pregnancy hypertension respectively. TWenty－five patients(64. 10%)had the history of perinatal hypoxia. The presentation of MRI shoWed 32 cases(82. 10%)of ischemic cerebral infarction and 7 cases(17. 90%)of hemorrhagic cerebral infarction,While middle cerebral artery and its branches Were more susceptible to NCI With a left hemisphere predominance. Sixteen patients(41. 03%)developed convulsions. TWo patients died of purulent meningoencephalitis associated With NCI. One patient gave up treatment in the neonatal period and died 2 days after discharge. One patient died of cerebral palsy and pneumonia at the age of 11 months. Nine cases(31. 03%)developed cerebral palsy,and 2 patients developed speech disturbance so they could not express complex sentences. Conclusions Perinatal hypoxia and emergency cesarean section may be closely related to the incidence of NCI. NCI resulting from purulent meningoencephalitis is more severe and has a Worse prognosis. Considering the facts that NCI usually does not have specific clinical manifestations in the early stage,MRI +DWI,as the gold standard for the diagnosis of NCI,could be performed to facilitate early diagnosis and intervention.

Objective To investigate clinical observation of spontaneous urinary extravasation caused by acute upper urinary tract obstruction and its nursing measures.Methods A total of 72 patients with acute obstructive urinary extravasation in our hospital were selected as research objects,and were divided into control group(n =34) and observation group(n =38),patients of two groups were performed surgical treatment,and were given traditional routine nursing and high quality nursing intervention,respectively.Postoperative complications and patients'care satisfaction.were observed.Results Incidence of postoperative complications in the observation group was obviously lower than the control group and nursing satisfaction was significantly higher than that in the control group (P ＜ 0.05).Conclusion High quality care can control infection and postoperative complications,and is conductive to postoperative rehabilitation for patients with spontaneous urinary extravasation caused by acute upper urinary tract obstruction,and can improve the efficacy of diagnosis and treatment,and patients' satisfaction.

Objective To investigate clinical observation of spontaneous urinary extravasation caused by acute upper urinary tract obstruction and its nursing measures.Methods A total of 72 patients with acute obstructive urinary extravasation in our hospital were selected as research objects,and were divided into control group(n =34) and observation group(n =38),patients of two groups were performed surgical treatment,and were given traditional routine nursing and high quality nursing intervention,respectively.Postoperative complications and patients'care satisfaction.were observed.Results Incidence of postoperative complications in the observation group was obviously lower than the control group and nursing satisfaction was significantly higher than that in the control group (P ＜ 0.05).Conclusion High quality care can control infection and postoperative complications,and is conductive to postoperative rehabilitation for patients with spontaneous urinary extravasation caused by acute upper urinary tract obstruction,and can improve the efficacy of diagnosis and treatment,and patients' satisfaction.

Physical factor therapy is commonly used in the treatment of nervous system damage. Recent years, physical factor therapy gets popular attention because of its good therapeutic effects, low cost, simple operation and widely application. This article respectively in-troduced the effects of electrical stimulation therapy, functional magnetic stimulation therapy and biofeedback therapy on neurogenic blad-der.

Objective To explore the associations between vitamin D receptor ( VDR) Fok- Ⅰ and Apa- Ⅰ polymorphisms and myasthenia gravis (MG) in Chinese Han population.Methods Polymorphisms of VDR Fok- Ⅰ and Apa-Ⅰ were determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method.The frequencies of genotypes and hyplotypes were compared among 286 normal controls and 267 MG patients in different subgroups classified by gender,age of onset,presence of thymoma,and Osserman classification sat maximal severity in the follow-up.The association between the genotypes and maximal severity of MG and short-term glucocorticoid treatment were also investigated.Results There were no significant differences in frequencies of genotypes and hyplotypes of both Fok-Ⅰ and Apa-Ⅰ between MG group and control group,and among subgroups of MG.The Fok- Ⅰ showed no statistical difference between the patients with better and less improvement after short-term treatment of glucocorticoid.The frequency of Apa-Ⅰ alleles in the patients with better improvement (55/186,29.6% ) significantly differed from the less improved group ( 7/48,14.6%,OR = 2.46,95% CI 1.04-10.43,x2 = 4.400,P = 0.036).The patients with the genotype A A/Aa were more likely to improve better after the treatment(48/93,51.6%) than in the worse group(7/24,29.2%,OR =2.59,95% CI 0.98-14.60,x2 =3.858,P= 0.049).Conclusions Alleles and genotypes of VDR-Fok- Ⅰ and Apa-Ⅰ were not found to be related with MG onset and severity.MG patients with VDR-Apa-A allele may have better improvement short-term treatment of glucocorticoid.

ObjectiveTo investigate the antiviral effect of siRNA on herpes simplex virus type 2 (HSV-2) in vitro.MethodsDifferent siRNA duplexes targeting HSV-2 VP16 and DNA polymerase genes were designed and chemically synthesized.The antiviral effect of siRNA duplexes was evaluated by virus yield reduction assay.In detail,Vero cells cultured in 24-well plates were transfected with different siRNAs 4 hours before(preventive effect experiment) or 1 hour after(therapeutic effect experiment) the inoculation with HSV-2(0.02 to 0.05 plaque forming unit/cell).After additional culture for 40 to 48 hours,the expression of target genes in Vero cells was measured by real-time quantitative reverse transcription(RT)-PCR.Results Both the siRNA duplex VP2-1 targeting HSV-2 VP16 and DP2-1 targeting DNA polymerase gene resulted in a remarkable decrease in viral titer by about 1 log10 in both the preventive and therapeutic effect experiment.As the preventive effect experiment showed,the expression of HSV-2 VP16 mRNA was decreased markedly by 58.6％ and 79.5％ by VP2-1,respectively,and that of HSV-2 DNA polymerase mRNA by 59.8％and 77.4％ by DP2-1,respectively,at 6 and 12 hours after the infection.ConclusionsThe siRNA duplexes targeting HSV-2 VP16 and DNA polymerase genes could inhibit the proliferation of HSV-2.Hence,HSV-2 VP16 and DNA polymerase genes may serve as the target genes of RNA interference to inhibit HSV-2 replication.

A 38-year-old woman presented with a 20-year history of yellow papules and band-like atrophy on the right neck. The lesions developed slowly and were asymptomatic. There was no history of long-term sun exposure or family history of similar diseases. Skin examination revealed multiple irregularly sized yellow papules and plaques on the right anterior neck following cleavage lines, multiple pin cap-sized perifollicular papules on the posterior right neck. Well-defined band-like atrophic patches with fine wrinkling were observed in the whole right neck, giving an aged appearance. The skin of the left neck was nearly normal. Pathological examination of biopsy specimens from the yellow papules showed a normal epidermis, scant lymphohistiocytic and melanophage infiltrates around the vessels in the superficial dermis without solar degradation. The collagen bundles in the mid dermis were slightly thickened and arranged tightly in parallel to the skin surface with the absence of inflammatory infiltrate. Verhoeff-van Giesen's staining confirmed a nearly complete absence of elastic fibers in the mid dermis as well as obvious swelling and breakage of resident scant elastic fibers. Von Kossa's staining was negative. Based on the above findings, the diagnosis was made as unilateral mid-dermal elastolysis.