Ovarian pregnancy: the situation in 2003. A report of four cases and literature review

Ovarian pregnancy remains a rare form of extracitérine pregnancy. It's incidence is estimated at 1 to 6% of ectopic pregnancies. We report 4 cases of ovarian pregnancies diagnosed at the obstetric and gynecology department of Nabeul H?spital (Tunisia) during a 4 year period. An update on ovarian pregnancy based on these 4 cases and a literature review is provided. In contrast to tubal pregnancy, ovarian pregnancy occurs as a single event in an otherwise healthy woman. There is no specific clinical, laboratory test or ultrasonographic signs for differentiating ovarian from tubal pregnancy. At laparoscopy, it frequently suggest haemorrhage from the corpus luteum or a rupture of ovarian cyst. Histology is the only means of establishing the diagnosés. Ovarian pregnancy rupture is often more dangerous than tubal pregnancy, but conservative treatment is often possible. Recurrency is exceptional and future fertility usually is unmodified.     

Phenol saddle blocks for intractable pain at end of life: report of four cases and literature review

Four cancer patients with prior bladder diversions had phenol neurolytic saddle blocks performed for intractable pelvi-sacral pain. All patients had advanced disease, the focus of their treatment being palliative. Treatment limiting side effects precluded further upward titration of systemic analgesic therapies. Pain control improved after intrathecal neurolysis and allowed a greater than 60 percent reduction in systemic opiate dosage. No significant block-related adverse effects were encountered. The value and technical aspects of intrathecal saddle blocks in end-of-life pain management is discussed.     

Prenatal diagnosis of omphalocele: a report of four cases

Fetal omphalocele is a congenital midline defect of the ventral abdominal wall with herniation of abdominal contents into the base of ombilical cord. The prenatal diagnosis of omphalocele by real-time sonography is important for intrauterine and neonatal management and prognosis. The prognosis and mortality rate is determined rather by the presence of serious associated anomalies, such as cardiovascular and chromosomal defects, than by the omphalocele itself. MRI should be used to screen for other associated anomalies. In this report we describe four cases of fetal omphalocele diagnosed by sonography. In one case an MR examination was performed for suspected associated nervous anomalies. Prenatal literature is further reviewed to assess the clinical significance of this finding.     

儿童X连锁血小板减少症3例及文献复习

目的分析3例X连锁血小板计数减少症(XLT)患儿的临床和分子遗传学特征,提高该病的临床诊断水平。 方法选择2012年1月至2014年5月于四川大学华西第二医院确诊为XLT的3例患儿为研究对象。本研究遵循的程序符合四川大学华西第二医院人体试验委员会所制定的伦理学标准,得到该委员会批准,分组征得受试对象监护人的知情同意,并与之签署临床研究知情同意书。结合国内外文献复习,对本组经WAS基因突变分析确诊的3例XLT患儿的临床特征和基因型进行回顾性分析。 结果3例(100.0%)XLT患儿均为男性,反复血小板计数减少为最突出临床表现,无阳性家族史,其确诊前均被误诊为原发性免疫性血小板减少症(ITP),使用糖皮质激素和静脉注射用免疫球蛋白(IVIG)治疗效果不佳,血小板计数持续减少。WAS基因分析证实患儿1和患儿3存在c.1378C>T错义突变,患儿2为c.256C>T错义突变,3例患者母亲均为相应突变基因携带者(100.0%)。 结论XLT为WAS的临床类型之一,以慢性或间歇性小血小板性血小板计数减少为显著临床特征,易于误诊为ITP。儿科医师对婴幼儿期起病的血小板计数减少的男性患儿应警惕XLT可能,并通过详尽病史采集、血小板计数和平均血小板体积(MPV)的动态监测,以及WAS基因突变检测,尽早明确诊断,指导临床治疗和预后评估。     

Late positive blood cultures in leptospiroses (report of four cases)

Leptospirosis in Tahiti was studied during 1981. 42 cases were detected by positive blood cultures grown in Stuart's medium. The present paper describes the isolation of leptospira from the blood of four cases 30 days after the date of onset.     

Occupational asthma after exposure to azodicarbonamide: report of four cases

Azodicarbonamide (Chemical Abstract Service Registry No 123.77.3) is an organic low molecular weight agent used for blowing and foaming plastics. Finely ground azodicarbonamide can be a pulmonary and sometimes a cutaneous acute sensitiser. Four cases of work related asthma are reported.     

Cohen综合征并文献复习

目的探讨VPS13B基因突变所致Cohen综合征患儿的临床特征及诊断特点，并进行相关文献复习，为Cohen综合征遗传咨询和诊断提供参考。 方法选择2019年1月，于中山大学孙逸仙纪念医院儿科确诊为Cohen综合征的2例患儿(患儿1、2)为研究对象。采用回顾性分析方法，收集2例患儿的临床病例资料，并对其病史采集、相关检查结果进行分析。以"Cohen综合征""Cohen syndrome"为关键词，检索在线人类孟德尔遗传数据库(OMIM)、PubMed数据库、中国生物医学文献服务系统(SinoMed)、中国知网(CNKI)、万方数据知识服务平台、维普中文科技期刊数据库中Cohen综合征相关文献，检索时间设定为1973年1月1日至2019年1月1日。本研究符合2013年修订的《世界医学协会赫尔辛基宣言》要求，并且征得受试儿家属(父亲、母亲及表叔)知情同意。 结果①患儿1病史采集：男性，4岁3个月，主要临床表现为精神运动发育落后、小头畸形和身材矮小。相关检查结果：血常规检查结果提示中性粒细胞计数减少；听性脑干反应(ABR)检查提示左侧听觉传导通路损伤，双侧听觉反应阈值可疑范围；双眼视觉诱发电位(VEP)检查未见异常；脑电图正常；头颅MRI平扫提示双侧额部脑外间隙稍增宽；全脊柱正侧位X射线摄片提示右侧轻度髋发育不良伴右髋关节半脱位可能；腰椎轻度左侧弯，疑为双髋关节不对称所致；心电图、心脏彩色多普勒超声检查和染色体核型分析均未见异常。②患儿2病史采集结果：患儿1胞弟，男性，1岁4个月，亦表现为精神运动发育落后，小头畸形和身材矮小。相关检查结果：双耳ABR正常；VEP检查提示右眼F-VEP P2波潜伏期稍延迟，振幅正常；脑电图正常；头颅MRI平扫未见异常；全脊柱正侧位X射线摄片、心电图、心脏彩色多普勒超声检查和染色体核型分析均未见异常。③患儿1、2遗传性疾病大家系全外显子组检测提示，2例患儿均携带VPS13B基因2个杂合病理性突变，即VPS13B[8q22 NM_017890.4 Intron50 c．9259-1G>C][8q22 NM_017890.4 Exon57 c．11104_11105de1]基因突变，这2个基因突变位点目前均尚未见文献报道。 结论Cohen综合征为一种罕见常染色体隐性遗传性疾病。临床上对于特殊面容、生长发育落后、高度近视、弱视和色素性视网膜病变伴中性粒细胞减少症的患儿，应考虑到Cohen综合征的可能性，并进行基因检测，以及时确诊Cohen综合征。     

Two cases of hyperthyroidism and ophthalmopathy following hypothyroidism

Two cases of Graves' disease emerging in previously hypothyroid patients are described. After two years of thyroid hormone substitution due to 'idiopathic' hypothyreosis (patient 1) and Hashimoto's thyroiditis (patient 2), the substitution had to be stopped. The persisting clinical and laboratory signs of immune hyperthyreosis, including positivity for TBII and TSAb, were accompanied by the signs of mild ophthalmopathy. The antibody-spectrum changes during the course of the disease are discussed.     

Enteric feeding in severe adolescent anorexia nervosa: a report of four cases

OBJECTIVE: Refeeding patients with anorexia nervosa can be one of the more challenging aspects of their treatment, and particularly if all food and fluids are adamantly and persistently refused. METHOD: If the decision is made to augment or replace oral feeds, the most common intervention is nasogastric feeding. RESULTS: Although this is often successful, a subset of patients manage to sabotage feeding via this route. Other means of delivering nutrition such as intravenous feeds are often impractical for long-term use. Another alternative in such life-threatening situations is the use of enteric feeds via gastrostomy or jejunostomy. This paper presents the successful use of such enteric feeding in four cases of severe adolescent anorexia nervosa. DISCUSSION: The psychological, legal, and ethical issues involved are discussed, concluding that gastrostomy and jejunostomy are valid lifesaving methods to feed highly resistant anorectic patients.