Kielland's forceps: association with neonatal morbidity and mortality.

The incidence of certain neonatal complications associated with the use of Kielland''s forceps was analyzed retrospectively in liveborn singleton babies delivered at this hospital between January and December 1976. The neonatal mortality rate attributable to use of the forceps was 34.9 per 1000. The incidences of delayed onset of respiration (17.4%), birth trauma (15.1%), and abnormal neurological behaviour--namely, apathy or irritability or both--(23.3%) significantly exceeded those in a matched group of babies born spontaneously. Fetal asphyxia played a major part in the aetiology of neonatal complications. Babies on whom Kielland''s forceps were used, however, had a significantly greater incidence of abnormal neurological behaviour even in the absence of fetal asphyxia (14.3%), and in all of these babies the abnormal behaviour was transient and did not necessitate admission to the special-care baby unit. Neither maternal height nor the infant''s birth weight or occipitofrontal head circumference influenced the occurrence of neonatal complications. The results also suggest that neither the speed of cervical dilatation nor the timing of engagement of the fetal head is of help in predicting the occurrence of neonatal complications after the use of Kielland''s forceps.     

RETROLENTAL FIBROPLASIA—Blindness in Infants of Low Weight at Birth

Retrolental fibroplasia is today the principal cause of blindness in children of preschool age, exceeding all other causes combined. The disease occurs in infants of low weight at birth, commonly those born prematurely. The incidence of the disease is rising at an alarming rate. Vitamin E deficiency, corticotropin (ACTH) deficiency, the use of cow''s milk in place of mother''s milk, and improper oxygenation have been suggested as etiologic factors but the cause remains a mystery. Often the incidence is high in institutions in which maximal care is given premature infants.Clinically, the disease advances through an “active” phase during which regression is possible, and a “subsiding” or “cicatricial” phase which terminates with the formation of a disorganized opaque mass behind the lens. The earliest manifestations are noted in the fundi. Hemorrhages, neovascularization, transudation commencing in the periphery, and retinal separation contribute to the formation of the characteristic retrolental membrane. The diagnosis may be made when the retrolental membrane is observed in the eye of an infant whose weight at birth was low. Differential diagnosis is required occasionally.Thus far, no form of therapy has prevented or reversed the pathologic changes successfully. Use of vitamin E, corticotropin and mother''s milk has not influenced the incidence of the disease. Avoidance of premature delivery if possible is indicated.     

Should we abandon Kielland's forceps?

To assess the risks associated with the use of Kielland''s forceps 2708 consecutive deliveries were studied prospectively and the neonatal outcome related to the mode of delivery. Of the 1191 primigravidas, 279 (23.4%) underwent instrumental delivery, of whom 65 (5.5%) were delivered with Kielland''s forceps. There was no difference in early neonatal outcome (as judged by Apgar scores, intubations, and admission to the special care baby unit) between these babies and those delivered normally or by non-rotational forceps, but a higher proportion of the 127 (10.7%) delivered by emergency caesarean section were compromised. Of the 1517 multigravid patients, only 57 (3.8%) underwent instrumental delivery, 15 (1.0%) by Kielland''s forceps. Among these babies, also, the outcome was no worse than for those delivered normally, but the babies delivered by caesarean section showed a greatly increased incidence of low Apgar scores, intubations, and admission to the special care baby unit. There were no stillbirths or neonatal deaths among babies delivered by Kielland''s forceps, nor were there any cases of severe birth trauma or of obvious neonatal morbidity.     

Facial nerve palsy in the newborn: incidence and outcome

This study retrospectively identifies and characterizes patients with facial palsy related to birth trauma and describes the natural history of this disorder. The records of infants born with facial weakness or paralysis over a 5-year period at Brigham and Women's Hospital were reviewed, and criteria were defined to assign a diagnosis of acquired facial palsy based on birth history and documented physical examinations. The majority of patients were followed up by interview with a family member. Among 44,292 infants born between October 1, 1982 and July 31, 1987, there were 92 recorded cases of congenital seventh nerve palsy. Of these, 81 were acquired, for an incidence of 1.8 per 1000. Seventy-four of the 81 (91 percent) were associated with forceps delivery. By contrast, obstetric forceps were used in 19 percent of all deliveries during the period of the study. The average weight of subjects was 3.55 kg, versus a mean overall birth weight of 3.23 kg. Fifty-nine percent of mothers of affected children and 37 percent of controls were prima gravidas. Forceps delivery, birth weight of 3500 gm or more, and primiparity were all significant risk factors for acquired facial palsy. The incidence of additional birth injuries also was substantially higher among affected subjects than among the general population of newborns. Sixty-six of 81 patients had adequate follow-up. Recovery has been complete for 59 patients (89 percent) and incomplete for the remaining 7 (mean follow-up 34 months). In summary, congenital traumatic facial palsy has definable risk factors and a predictably favorable outcome.     

End-stage reflex sympathetic dystrophy

Reflex sympathetic dystrophy is an automatic dysfunction that occasionally complicates healing after trauma or surgery. The syndrome is characterized by pain, swelling, stiffness, and discoloration often out of proportion to the original injury. Early diagnosis and appropriate treatment are the most important factors in the successful outcome of this disabling condition. A case of longstanding, previously untreated reflex sympathetic dystrophy secondary to a minor injury is presented.     

200例先天性尿道下裂患儿的临床特征及其危险因素分析

目的:研究200例先天性尿道下裂患儿的临床特征及其危险因素。方法:选择2016年1月~2019年12月我院收治的先天性尿道下裂患儿200例进行研究,记作观察组,另取同期于我院接受体检的健康儿童200例作为对照组,分析观察组患儿的临床分型情况,比较两组儿童父母的一般情况、儿童出生情况,并采用多因素Logistic回归分析先天性尿道下裂的影响因素。结果:200例先天性尿道下裂患儿临床分型按照占比从高到低的顺序依次为阴茎体型46.50%(93/200)、阴茎阴囊型28.00%(56/200)、冠状沟型17.00%(34/200)、阴囊型4.50%(9/200)、阴茎头型3.00%(6/200)、会阴型1.00%(2/200)。观察组父亲生活性接触化学物、母亲流产史、母亲孕期饮食缺乏肉类、母亲孕期饮食缺乏鱼类、母亲孕期应用保胎药、母亲孕期吸烟或被动吸烟人数占比均高于对照组(均P<0.05)。观察组早产、低出生体重人数占比高于对照组(均P<0.05)。经多因素Logistic回归分析显示,父亲生活性接触化学物、母亲流产史、母亲孕期饮食缺乏肉类、母亲孕期饮食缺乏鱼类、母亲孕期应用保胎药、母亲孕期吸烟或被动吸烟、早产、低出生体重均是先天性尿道下裂的危险因素(均P<0.05)。结论:先天性尿道下裂患儿临床分型以阴茎体型为主,双亲不良生活习惯、化学物接触史以及早产、低出生体重均是先天性尿道下裂的危险因素,值得临床重点关注。     

Corneal Donor Tissue Preparation for Descemet's Membrane Endothelial Keratoplasty

Descemet’s Membrane Endothelial Keratoplasty (DMEK) is a form of corneal transplantation in which only a single cell layer, the corneal endothelium, along with its basement membrane (Descemet''s membrane) is introduced onto the recipient''s posterior stroma³. Unlike Descemet’s Stripping Automated Endothelial Keratoplasty (DSAEK), where additional donor stroma is introduced, no unnatural stroma-to-stroma interface is created. As a result, the natural anatomy of the cornea is preserved as much as possible allowing for improved recovery time and visual acuity⁴. Endothelial Keratoplasty (EK) is the procedure of choice for treatment of endothelial dysfunction. The advantages of EK include rapid recovery of vision, preservation of ocular integrity and minimal refractive change due to use of a small, peripheral incision¹. DSAEK utilizes donor tissue prepared with partial thickness stroma and endothelium. The rapid success and utilization of this procedure can be attributed to availability of eye-bank prepared precut tissue. The benefits of eye-bank preparation of donor tissue include elimination of need for specialized equipment in the operating room and availability of back up donor tissue in case of tissue perforation during preparation. In addition, high volume preparation of donor tissue by eye-bank technicians may provide improved quality of donor tissue. DSAEK may have limited best corrected visual acuity due to creation of a stromal interface between the donor and recipient cornea. Elimination of this interface with transplantation of only donor Descemet''s membrane and endothelium in DMEK may improve visual outcomes and reduce complications after EK⁵. Similar to DSAEK, long term success and acceptance of DMEK is dependent on ease of availability of precut, eye-bank prepared donor tissue. Here we present a stepwise approach to donor tissue preparation which may reduce some barriers eye-banks face in providing DMEK grafts.     

Dysmorphic face in two siblings with infantile neuroaxonal dystrophy

Infantile neuroaxonal dystrophy (INAD) is an autosomal recessive, neurodegenerative disease with onset in the first or second year of life. It has been reported that INAD shows numerous phenotype characteristics including problems associated with vision, hearing and physical coordination. It has however been very rare to see facial dysmorphism in these children. The study analyzes a girl and boy of a first cousin marriage with infantile neuroaxonal dystrophy affected at birth. At infancy, the children were examined in the Cerrahpa?a Medical Faculty Genetic Research Center, Istanbul. They had typical INAD features such as the lack of head control, vision, speech, sitting, and walking which are also seen in children with other congenital abnormalities. These children showed remarkable dysmorphism in the face which included prominent forehead, strabismus, small nose, fish mouth (boy), micrognathia, and large and low-settled ears. The presence of these facial features makes the patients appear unique and diagnosis more accurate. While these features are commonly seen diagnosis may be difficult at its onset. Until now this appearence has not been reported in INAD patients. In conclusion, in the first few months of life without any clinical or neurological signs, the physician should also consider diagnosing the disease of the infant as INAD.     

Congenital Malaria in Newborns Selected for Low Birth-Weight,Anemia, and Other Possible Symptoms in Maumere,Indonesia

Congenital malaria is assumed to be a risk factor for infant morbidity and mortality in endemic areas like Maumere, Indonesia. Infected infants are susceptible to its impact such as premature labor, low birth weight, anemia, and other unspecified symptoms. The aim of this study was to investigate the prevalence of congenital malaria and the influence of mother-infant paired parasite densities on the clinical outcome of the newborns at TC Hillers Hospital, Maumere. An analytical cross sectional study was carried out in newborns which showed criteria associated with congenital malaria. A thick and thin blood smear confirmed by nested PCR was performed in both mothers and infants. The association of congenital malaria with the newborn''s health status was then assessed. From 112 mother-infant pairs included in this study, 92 were evaluated further. Thirty-nine infants (42.4%) were found to be infected and half of them were asymptomatic. Infected newborns had a 4.7 times higher risk in developing anemia compared to uninfected newborns (95% CI, 1.3-17.1). The hemoglobin level, erythrocyte amount, and hematocrit level were affected by the infants'' parasite densities (P<0.05). Focusing on newborns at risk of congenital malaria, the prevalence is almost 3 times higher than in an unselected collective. Low birth weight, anemia, and pre-term birth were the most common features. Anemia seems to be significantly influenced by infant parasite densities but not by maternal parasitemia.     

Apparent or true neonatal hip dislocation? Radiologic differential diagnosis.

A case of neonatal separation of the proximal femoral epiphysis secondary to obstetric trauma is presented. The radiologic differential diagnosis, as in other cases of neonatal dislocation of the hip, included congenital and septic dislocation of the hip and epiphyseal separation - so-called apparent dislocation. When clinical and laboratory signs are minimal or equivocal, x-ray films and, in difficult cases, contrast arthrograms are needed for an accurate diagnosis of neonatal dislocation of the hip.     

Prenatal Diagnosis: A Directive Approach to Genetic Counseling Using Decision Analysis

The decision which prospective parents face concerning mid-trimester amniocentesis for prenatal diagnosis was examined by decision analysis. The prospective parents'' decision depends on the likelihood of the birth of a child affected by a genetic disorder, the risk of amniocentesis, and the probability that the diagnoses provided by the amniocentesis will be correct. The couple''s decision must also depend on their attitudes toward each possible outcome. The likelihoods of the outcomes can be obtained from appropriate medical consultation, while the relative costs or burdens of the outcomes should be obtained from the prospective parents. A truly informed decision for this couple can then be formulated from these probabilities and values, thus allowing genetic counseling to be more directive. The technique is illustrated for the prenatal diagnosis of Down''s syndrome, meningomyelocele, and Duchenne muscular dystrophy.     

THE ONTOGENY OF ASYMMETRY IN EARWIG FORCEPS

Fluctuating asymmetry may play an important role in the evolution of naturally selected and secondary sexual traits. However, very little is known about how asymmetries arise or how organisms maintain symmetry during development. Here I propose three mutually exclusive patterns for the development of asymmetries through consecutive growth stages: (1) compensatory growth, in which growth of the shorter side is greatest at the following growth stage; (2) persistent growth, in which growth of the longer side is greatest at the following growth stage; and (3) uncorrelated growth in which growth of the following stage is unrelated to the asymmetry at the previous one. I followed the growth in the forceps of male earwigs through four successive instars. Dyar's rule was used as a null model of insect growth. In the molt from the second to third instar, asymmetries increased through uncorrelated growth and with the magnitude but not the sign expected from Dyar's rule. However, following this, at the molts between instars 3–4 and 4–5, compensatory growth maintained asymmetries at a lower level than expected from Dyar's rule. Although there was no reduction in the absolute magnitude of asymmetry, relative asymmetry did decline. The net growth of forceps length did not follow Dyar's rule. The interpretation of patterns of growth were more sensitive and informative than the interpretation of the relations between asymmetries at consecutive instars.     

Neurological follow-up of 281 children born in breech presentation: a controlled study.

A study was conducted of all children delivered in breech presentation from 1969 to 1977 in the university''s department of obstetrics. One-fifth of the deliveries were by caesarean section. Perinatal mortality was high (13.2%) but was due almost exclusively to causes other than the birth itself. The 256 surviving children and their matched controls were neurologically examined at 18 months or at ages varying between 3 and 10 years. The attrition rate was 5.7%, but in most cases data on development were available. Significant differences between the study and control groups existed for only minor neurological dysfunctions. It is concluded that the main danger of breech presentation is in the associated complications of pregnancy and that there is no reason to advocate a higher frequency of abdominal delivery than the 20% found in this study.     

Monophasic synovial sarcoma presenting as a primary ileal mass: a case report and review of the literature

Introduction

Iliocaval fistulas can complicate an iliac artery aneurysm. The clinical presentation is classically a triad of hypotension, a pulsatile mass and heart failure. In this instance, following presentation with multiorgan failure, management included the immediate use of an endovascular stent graft on discovery of the fistula.

Case presentation

A 62-year-old Caucasian man presented to our tertiary hospital for management of iatrogenic trauma due to the insertion of a central venous line into his right common carotid artery, causing transient ischemic attack. Our patient presented to a peripheral hospital with fever, nausea, vomiting, acute renal failure, acute hepatic dysfunction and congestive heart failure. A provisional diagnosis of sepsis of unknown origin was made. There was a 6.5 cm×6.5 cm right iliac artery aneurysm present on a non-contrast computed tomography scan. An unexpected intra-operative diagnosis of an iliocaval fistula was made following the successful angiographic removal of the central line to his right common carotid artery. Closure of the iliocaval fistula and repair of the iliac aneurysm using a three-piece endovascular aortic stent graft was then undertaken as part of the same procedure. This was an unexpected presentation of an iliocaval fistula.

Conclusion

Our case demonstrates that endovascular repair of a large iliac artery aneurysm associated with a caval fistula is safe and effective and can be performed at the time of the diagnostic angiography. The presentation of an iliocaval fistula in this case was unusual which made the diagnosis difficult and unexpected at the time of surgery. The benefit of immediate repair, despite hemodynamic instability during anesthesia, is clear. Our patient had two coronary angiograms through his right femoral artery decades ago. Unusual iatrogenic causes of iliocaval fistulas secondary to previous coronary angiograms with wire and/or catheter manipulation should be considered in patients such as ours.     

What proportion of congenital abnormalities can be prevented?

OBJECTIVE--To estimate the proportion of preventable congenital abnormalities in Hungary. DESIGN--Analysis of available Hungarian data-bases and of the effectiveness of primary, secondary, and tertiary preventive methods. SETTING--Databases of ad hoc epidemiological studies and of the Hungarian congenital abnormality registry. MAIN OUTCOME MEASURES--Prevalence at birth and prevalence after prevention in 73 congenital abnormality types or groups. RESULTS--Preventive methods are available for 51 (70%) of the 73 congenital abnormality types or groups evaluated. The birth prevalence of all congenital abnormalities could be reduced from 65 to 26 per 1000; thus 39 per 1000 (60%) are preventable. Without congenital dislocation of the hip, which is unusually common in Hungary, the preventable proportion of congenital abnormalities is 52%. CONCLUSION--Many congenital abnormalities can be prevented, but as they do not represent a single pathological category there is no single strategy for their prevention.     

Oxytocin infusion during second stage of labour in primiparous women using epidural analgesia: a randomised double blind placebo controlled trial.

OBJECTIVE--To determine whether the high rate of forceps delivery associated with the use of epidural analgesia could be reduced through giving an intravenous infusion of oxytocin during the second stage of labour. DESIGN--A randomised, double blind, placebo controlled trial. SETTING--Delivery suites in three hospitals. SUBJECTS--226 Primiparous women with adequate epidural analgesia in whom full dilatation of the cervix had been achieved without prior stimulation with oxytocin. INTERVENTION--An infusion of oxytocin or placebo starting at the diagnosis of full cervical dilatation at an initial dose rate of 2 mU/min increasing to a maximum of 16 mU/min. MAIN OUTCOME MEASURES--The outcome of labour was assessed in terms of the duration of the second stage, mode of delivery, fetal condition at birth, postpartum blood loss, and the incidence of perineal trauma. RESULTS--Treatment with oxytocin was associated with a shorter second stage (p = 0.01), a reduction in the number of non-rotational forceps deliveries (p = 0.03), and less perineal trauma (p = 0.03) but was not associated with any reduction in the number of rotational forceps deliveries performed for malposition of the occiput. No adverse effects on fetal condition at birth or in the early puerperium were seen in association with the use of oxytocin. CONCLUSIONS--The use of an oxytocin infusion may reduce the high rate of operative delivery associated with epidural analgesia provided that the fetal occiput is in an anterior position at the onset of the second stage of labour but within the dose range studied does not seem to correct malposition of the fetal occiput.     

Pediatric cataracts

Congenital and acquired pediatric cataracts are recognized by many as being among the visually devastating pathologies of children. They remain one of the leading causes of legal blindness for children in under developed countries world wide. Diagnosed in approximately 400–500 patients per year in the United States alone, their presence requires agressive management with concurrent amblyopia therapy. Although most pediatric opacities are idiopathic, systemic etiologies which include genetic inheritance (Fabry's disease, Lowe's syndrome, Conradi's syndrome) metabolic disturbances (Galactosemia, Hypocalcemia, hypoglycemia, retinitis pigmentosa), infectious diseases (maternal syphilis, varicella virus, herpes virus, cytomegalovirus), toxic substances and trauma must be investigated. We reviewed the literature for pertinent information on the differential diagnosis of congenital and acquired cataracts in the pediatric population. The modalities and techniques of the pediatric examination are presented along with a discussion of the maladies, most recent advances in surgical intervention, optical or contact lens correction and amblyopia therapy associated with pediatric cataracts.     

颗粒状角膜营养不良的研究进展

颗粒状角膜营养不良是一种临床少见的常染色体显性遗传病,由于5q31染色体上的TGFBI突变使TGFBIp在角膜前弹力层和基质层异常聚集以及代谢的障碍,导致患者双侧角膜进行性出现不同程度的的浑浊,造成视力的进行性损害。目前报道的TGFBI突变至少有66种,其中至少有10种与颗粒状角膜营养不良有关,由于基因型的差异、纯合子以及杂合子的区别,患者表现型也有很大的差别。随着人们对该病认识的提高,共聚焦显微镜、基因诊疗等方法的应用,越来越多的患者得到了正确诊断,目前的治疗的方法主要有角膜移植和激光消融治疗,但由于术后复发甚至加重的原因,并不能使患者满意。由于颗粒状角膜营养不良动物模型的建立,锂或者基因治疗等方法将会有良好的应用前景。     

Merosin deficient congenital muscular dystrophy: Clinical,neuroimaging and immunohistochemical study of 8 Egyptian pediatric patients

Congenital muscular dystrophies (CMD) are a group of heterogeneous inherited autosomal recessive disorders characterized by muscular weakness, hypotonia and contractures. The Merosin Negative CMD (MNCMD) is considered to be the most severe form and is usually associated with white matter abnormalities as seen with brain imaging. Merosin is also expressed in the nervous system and its deficiency could affect its development. This article describes the clinical picture, muscle biopsy findings and neuroimaging abnormalities of eight Egyptian Pediatric patients with the clinical presentation of merosin negative congenital muscular dystrophy. The leading clinical presentation in almost all patients was severe hypotonia, muscular weakness and failure to achieve motor developmental milestones, only Case 2 walked at 2 years of age. Mentality was normal in most patients with exception of Case 2 in whom scholastic achievement was poor and was associated with behavior abnormality. Serum Creatine kinase ranged from moderate to severe elevation, 536–3563 U/L, Electromyography demonstrated a myopathic pattern in all patients. Brain MRI showed extensive demyelination of the cerebral white matter in 6/8 patients with extension to cerebellar demyelination in Case 5. 5/8 patients underwent muscle biopsy for which immunofluorescence staining for merosin demonstrated complete deficiency of laminin α2 in Case 5 & partial deficiency of laminin α2 in Case 2.This report demonstrates the utility of Immunofluorescence staining as a guide to confirm the diagnosis of MDCMD especially when molecular diagnosis is not available.     

青少年GATA2缺陷继发骨髓增生异常综合征一例并文献复习

摘要 目的：提高对青少年GATA2缺陷继发骨髓增生异常综合征（MDS）疾病的认识。方法：回顾性分析我院收治的1例青少年GATA2缺陷继发MDS患者的诊疗过程,并结合相关文献进行复习总结。结果：患者男,17岁,2018年6月于我科诊断为MDS(MDS-EB-I,IPSS中危-1;WPSS高危;IPSS-R高危),继发骨髓纤维化。完善血液遗传全外显子基因检查提示患者GATA2基因突变。修正诊断为GATA2缺陷综合征、继发MDS( MDS-EB-I,IPSS中危-1;WPSS高危;IPSS-R高危) 、继发骨髓纤维化。完善患者姐姐血常规检查提示白细胞轻度减少,检查患者姐姐GATA2基因检测到GATA2基因错义突变。患者治疗期间反复出现多部位感染。进一步检查患者父母GATA2基因提示患者父亲GATA2基因存在错义突变。患者GATA2基因突变系父系遗传。结论：对于青少年MDS患者,应对其进行血液遗传学全外显子基因检查以确认其有无先天性疾病;对于存在先天性基因突变的患者,建议行家系筛查,并尽早行造血干细胞移植治疗。