希-内学习能力测验中国3-7岁儿童常模修订

目的:对希-内学习能力测验中国听障儿童和健听儿童常模进行第二次的修订。方法:在全国六大行政区13个省进行抽样,常模年龄范围为3-7岁,每0.5岁为一个抽样单位,共计10个抽样单位;每省城市和农村各选一个点,共26个抽样点,每一抽样点60个儿童,样本人群中男女各半,城市农村各半。结果:参照新修订的听障儿童和健听儿童的常模,760例听障儿童的平均智商是100.69±21.24,776例健听儿童的平均智商是99.44±15.20;难度系数在0.30-0.70,鉴别指数在0.30以上;评分者信度在0.98以上,重测信度0.82(N=34),克朗巴赫系数=0.70,各分测验之间、各分测验和总智商之间相关系数均有统计学意义;该量表每个分测验在公因子的负荷值均大于0.4,公因子的累积方差贡献率在40%以上;健听儿童与听障儿童的测验结果与儿童神经心理诊断量表测验结果的相关系数分别是0.56和0.52。结论:修订的常模适应当今儿童智力发育的需要,量表难度适中,鉴别力良好,有良好的信度和效度。     

父母教养方式对3～9岁儿童自尊的影响

目的:考察父母教养方式对3～9岁儿童自尊的影响。方法:采用3～9岁儿童自尊教师评定问卷和父母教养方式问卷对700名儿童进行调查。结果:(1)民主性教养方式与自尊总分呈显著正相关(r=0.687,P=0.000)。(2)父母在不一致性、溺爱性教养方式上的评分与儿童自尊总体(F=7.544,P=0.001;F=3.650,P=0.026)以及重要感(F=6.578,P=0.001;F=3.781,P=0.023)、外表感(F=4.418,P=0.012)、自我胜任感(F=6.132,P=0.002;F=4.989,P=0.007)维度存在显著差异。结论:民主性教养方式有助于儿童形成高自尊;相反,对儿童越溺爱、教育方式越不一致,则容易使儿童形成低自尊。     

6～11岁肥胖儿童行为问题调查

目的：调查6～11岁肥胖儿章行为问题。方法：采用Achenbach’s儿童行为量表（CBCL），对安徽省安庆市与铜陵市111名调查对象进行问卷调查。结果：肥胖儿童行为问题发生率为36．94％，男、女分别为40．38％和33．90％，性别间差异无统计学意义（P〉0．05）。4～16岁正常儿童青少年行为问题总发生率为12．97％（男童13．44％、女童12．52％），肥胖儿童整体及按性别比较，行为问题发生率均较高（u分别为7．52、5．70和4．96，P均〈0．01）。男童行为问题各因子发生率由高到低依次为：强迫行为34．62％、分裂焦虑23．08％、抑郁19．23％、体诉15．39％、交往不良13．46％、社交退缩9．62％、多动9．62％、攻击性9．62％和违纪表现5．77％，各因子发生率差异有统计学意义（X^2=25．25，P〈0．05）；女童行为问题各因子发生率依次为：分裂强迫23．73％、抑郁11．86％、多动10．17％、性问题10．17％、体诉848％、攻击性8．48％、社交退缩6．78％、残忍表现6．78％和违纪表现5．09％，差别有统计学意义（X^2=15．59，P〈0．05）。男、女童共有的6个行为问题因子：社交退缩、多动、体诉、违纪表现、攻击性、抑郁，无性别差异（P均〉0．05）。结论：肥胖儿童行为问题发生率远远高于全国4～16岁儿童青少年，肥胖男童主要表现在强迫行为、分裂焦虑、抑郁、体诉、交件不良，女童主要表现在分裂强迫、抑郁、多动、性问题。     

Long-Term Results of Total Hip Arthroplasty with an Extensively Porous Coated Stem in Patients Younger than 45 Years Old

Purpose

This study analyzed the long-term results of cementless total hip arthroplasty using an extensively porous coated stem in patients younger than 45 years old.

Materials and Methods

The clinical and radiographic results of 45 hips from 38 patients who underwent cementless total hip replacement arthroplasty with an AML prosthesis were reviewed retrospectively. The average follow-up was 12 years (range, 10-15 years).

Results

The average Harris hip score at the time of final follow-up was 87.3 (range 77-94) points. Forty two hips (93.3%) showed excellent and good clinical results. Osteolysis occurred around the stem in 20 hips (44.4%) and around the cup in 26 hips (57.8%). Stress-mediated femoral resorption was observed in 33 hips (73.3%) at 10 years. There was no incidence of resorption progressing after 5 years postoperatively. There was no stem loosening. Five hips were revised for osteolysis, cup loosening and polyethylene wear.

Conclusion

The long term results of total hip arthroplasty using an extensively porous coated stem were acceptable, and there was no case involving the progression of proximal bone resorption.     

运用森田疗法治疗网络成瘾一例

目的 对患网络成瘾的大学生进行心理治疗。方法 运用森田疗法的基本原理和指导思想，通过与森田日记的方法对患有网络成瘾的来询者进行治疗。结果 治疗后来询者在认知、情绪、主观感受、行为等方面发生了很大的改变，网络成瘾行为得到了明显改善。结论 森田疗法能有效的治疗大学生的网络成瘾。     

From a Pictogram to a Symbol: Working with a Transgender Patient in an NHS Gender Clinic Using Piera Aulagnier's Theory of Identity Formation

This article presents clinical work with a transgender patient who was attending a regional NHS gender clinic in England. It aims to link aspects of the patient's identity formation with the theoretical framework offered by the French psychiatrist and psychoanalyst Piera Aulagnier. Emphasizing the complexity of (gender) identity and its process of development, the concept of the ‘birth of the body’ is used to situate the development of gender identity as a process of the creation of an individual narrative, with the experience of embodiment based on unconscious fantasy as specifically troubling for transgender individuals. This struggle may be seen in the clinical material presented. Recommendations are made for working with transgender clients who suffer from a disturbance in creating and navigating relationships. By using the concept of the ‘word-bearer’, an exploration may be opened up of the unconscious dynamics between the clinic as an object that offers understanding, and the service user who is seeking meaning and a remedy for subjective suffering.     

Point Mutation of an EYA1-gene Splice Site in a Patient with Oto-facio-cervical Syndrome

Mutations of the EYA1 gene (8q13.3) are the most common known cause of the branchio‐oto‐renal dysplasia (BOR), an autosomal dominant disease that includes developmental defects of branchial arch structures, middle and/or inner ear and kidney. The distinction between BOR and other dysplasias, such as oto‐facio‐cervical syndrome (OFC), is challenged by frequent association of the former to other diverse malformations, and by variable expressivity even within the same family. OFC is characterized by trophic alterations of the facies and shoulder girdle in addition to the malformations seen in BOR. Recent characterization of one OFC patient shed some light on the controversy over whether OFC and BOR are the same disease, and led to the hypothesis that OFC is caused by contiguous deletions of EYA1 and adjacent genes. By contrast, we show here that an OFC patient bears a single‐nucleotide substitution in a splice site of EYA1. Our results indicate that not only major rearrangements, but also point mutations altering the EYA1 reading frame, can be found in patients with OFC syndrome.     

Case of cyclopia with an unbalanced karyotype attributable to a balanced 3/7 translocation

This report presents a case of cyclopia attributable to an unbalanced karyotype in a family with a balanced, reciprocal 3/7 translocation. This case was the fifth recorded in three generations of this family. From this report it is possible that the simultaneous action of partial trisomy 3p and partial monosomy 7q may be one cause of holoprosencephaly.     

Obstructive sleep apnoea secondary to superior vena cava thrombosis in a patient with activated protein C resistance

Summary Question of the Study Only five cases of superior vena cava (SVC) thrombosis as a cause of obstructive sleep apnoea (OSA) have as yet been reported. In this study, we aimed to describe an additional case and to review the literature on this subject.
Patients and Methods Based on the medical records, the case history of a 58-year-old man with OSA due to SVC thrombosis is presented. Furthermore, PubMed articles were browsed with the search items 'sleep apnoea' and 'superior vena cava thrombosis'.
Results The patient complained of the development of facial swelling and plethora during the previous 2  months. Furthermore, he reported the recent onset of snoring and excessive daytime sleepiness. Computed tomography of the thorax and mediastinal phlebography showed SVC thrombosis. Polysomnography demonstrated moderate to severe OSA. The cases of OSA secondary to SVC thrombosis already reported in the literature were mainly caused by mediastinal tumours compressing the SVC. In the present case, we found activated protein C (APC) resistance as the underlying disease. From the literature, it is known that therapies aimed at recanalization or relief of the SVC might lead to reversal of the OSA. In our patient, recanalization of the SVC was not possible and thus he had to be treated by continuous positive airway pressure therapy.
Conclusion In summary, we report on the rare occurrence of OSA due to SVC thrombosis. In the present case we found APC resistance as the underlying disease, which has not yet been reported in the literature.     

Sequential Bilateral Lung Resection in a Patient with Mycobacterium Abscessus Lung Disease Refractory to Medical Treatment

Mycobacterium abscessus (M. abscessus) is the second most common nontuberculous mycobacteria (NTM) in South Korea. Nevertheless, the diagnosis and treatment of M. abscessus lung disease can be problematic. Surgical resection has been tried for patients with localized M. abscessus lung disease refractory to medical treatment. Here, we report on a 25-year-old woman with M. abscessus lung disease who had been diagnosed and treated three times for pulmonary tuberculosis. She was initially diagnosed as having M. intracellulare lung disease; however, M. abscessus was isolated after several months of medication. She had multiple bronchiectatic and cavitary lesions bilaterally, and M. abscessus was repeatedly isolated from her sputa despite prolonged treatment with clarithromycin, ethambutol, moxifloxacin, and amikacin. She improved only after sequential bilateral lung resection. Based on the experience with this patient, we suggest that, if medical treatment fails, surgical resection of a diseased lung should be considered even in patients with bilateral lesions.     

Successful Azathioprine Treatment with Metabolite Monitoring in a Pediatric Inflammatory Bowel Disease Patient Homozygous for TPMT*3C

Thiopurine S-methyltransferase (TPMT) methylates purine analogues, showing TPMT activity in inverse relation to concentrations of active metabolites such as 6-thioguanine nucleotide (6-TGN). With conventional dosing of thiopurines, patients with homozygous variant TPMT alleles consistently suffer from severe myelosuppression. Here, we report a patient with TPMT^*3C/^*3C who managed successfully with monitoring of thiopurine metabolites. The patient was an 18-year-old male diagnosed with Crohn''s disease. The standard dose of azathioprine (AZA) (1.8 mg/kg/day) with mesalazine (55.6 mg/kg/day) was prescribed. Two weeks after starting AZA treatment, the patient developed leukopenia. The DNA sequence analysis of TPMT identified a homozygous missense variation ({"type":"entrez-nucleotide","attrs":{"text":"NM_000367.2","term_id":"62953142","term_text":"NM_000367.2"}}NM_000367.2: c.719A>G; p.Tyr240Cys), TPMT^*3C/^*3C. He was treated with adjusted doses of azathioprine (0.1-0.2 mg/kg/day) and his metabolites were closely monitored. Leukopenia did not reoccur during the follow-up period of 24 months. To our knowledge, this is the first case of a patient homozygous for TPMT^*3C successfully treated with azathioprine in Korea. While a TPMT genotyping test may be helpful to determine a safe starting dose, it may not completely prevent myelosuppression. Monitoring metabolites as well as routine laboratory tests can contribute to assessing drug metabolism and optimizing drug dosing with minimized drug-induced toxicity.     

Bariatric Surgery as the One Route to Achieving Donor Heart Transplantation in a Patient with a Left-Ventricular Assist Device

Bariatric and metabolic surgery is currently the most effective procedure of achieving and maintaining weight loss. In the case under discussion, a 48-year-old male patient with heart insufficiency and an implanted left-ventricular assist device (LVAD) wanted to reduce his high BMI (48.6 kg/m²), so as to qualify for the heart transplant waiting list. According to the guidelines, he underwent all the required preoperative testing, which included psychosomatic clarifications, determination of endocrinological causes, and a nutritional consultation. During laparoscopic sleeve gastrectomy, a cardiac technician was present to support the anesthetist. After inserting 3 trocars with no complications, the greater curvature was mobilized using Medtronic''s bipolar electrothermal vessel-sealing instrument, LigaSure™. The resection was performed with an Ethicon™ endostapler. Postoperative monitoring showed no signs of hemorrhage. The patient''s BMI on the day of surgery was 46.8 kg/m² and consecutively fell to 26.7 kg/m² 1 year after the procedure. Follow-up appointments revealed that the patient was fit and in good health. Thus, the patient''s aim of being listed on the transplant list was fulfilled, and at the time of this writing, he is ready to be matched with an organ donor. Because high-BMI patients with inserted LVADs are less likely to receive a donor graft and must remain longer on transplant waiting lists than normal-weight patients, bariatric and metabolic weight loss surgery may lead to a speedier resolution for these high-risk patients.     

A Rare Cause of Gross Hematuria Due to Placing a Patient with Distended Bladder in Prone Position

How to cite this article: Seema S, Trivedi S, Padala SRAN, Kiran M. A Rare Cause of Gross Hematuria Due to Placing a Patient with Distended Bladder in Prone Position. Indian J Crit Care Med 2023;27(1):73–74.     

Extremely Elevated International Normalized Ratio of Warfarin in a Patient with CYP2C9*1/*3 and Thyrotoxicosis

A 73-yr-old Korean man with permanent atrial fibrillation visited outpatient clinic with severely increased International Normalized Ratio (INR) values after taking a usual starting dosage of warfarin to prevent thromboembolism. We found out later from his blood tests that he had hyperthyroidism at the time of treatment initiation. His genetic analysis showed CYP2C9^*1/^*3 and VKORC1+1173TT genotypes. We suspect that both hyperthyroidism and genetic variant would have contributed to his extremely increased INR at the beginning of warfarin therapy. From this case, we learned that pharmacogenetic and thyroid function test might be useful when deciding the starting dosage of warfarin in patients with atrial fibrillation.

Graphical Abstract

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一个遗传性共济失调3型家系中致病ATXN3中间类型等位基因分析

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Duplication 3q: Severe manifestations in an infant with duplication of a short segment of 3q

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