BACKGROUND & AIMS: INTRODUCTION:Hereditary multiple exostoses (HME) or osteochondromatosis is a rare autosomal dominant disease characterized by multiple osteochondromas and skeletal deformities. PATIENT CONCERNS & DIAGNOSES:We present the case of a 5 years and 9 month-old patient who presented with inferior limb pain for approximately 6 months, associating also deformity of the right index finger for a month. Hand X-ray revealed a radiologic abnormality of the right radius, therefore the child was referred to our clinic for further investigations. The X-rays revealed multiple osteochondromas of the radius, metacarpal bones, hand phalangeal bones, femur, tibia, fibula, metatarsal bones, and foot phalangeal bones. We mention that the same radiological aspect was identified in the case of the patient's mother, undiagnosed until that moment. OUTCOMES:The particularity of this case consists in identification of a rare genetic pathology, HME in a 5-year-old patient, without any known familial history, after the occurrence of a nontraumatic joint dislocation of the right index finger. CONCLUSION:HME is a rare genetic condition, without a curative treatment, burdened by multiple complications, and whose diagnosis is usually established during childhood.

背景与目标：

BACKGROUND & AIMS: : Background: Limited data are available on the perinatal and postnatal transmission of novel coronavirus disease 2019 (COVID-19). The Centers for Disease Control and Prevention (CDC) and World Health Organization (WHO) recommended breastfeeding with necessary precautions to mothers with COVID-19. Case Presentation: A 20-year-old pregnant woman with no symptoms of COVID-19 presented to the hospital for delivery at 39 weeks of gestation. She was tested for severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) by reverse transcriptase polymerase chain reaction (RT-PCR) because her father had been diagnosed with COVID-19. A nasopharyngeal swab RT-PCR test was positive for SARS-CoV-2. Therefore, the baby and the mother were cared for separately after delivery. Breast milk obtained after first lactation was tested by real-time RT-PCR and was positive for SARS-CoV-2. Conclusions: In this article, we aimed to report the presence of SARS-CoV-2 in breast milk. Although further studies are needed, this situation may have an impact on breastfeeding recommendations.

背景与目标：

BACKGROUND & AIMS: :Cardio-facio-cutaneous syndrome is characterized by complex congenital heart disease, characteristic facies, ectodermal abnormalities, growth failure, and mental retardation. It has been described as a distinctive entity from Noonan syndrome. This paper presents a child with cardio-facio-cutaneous syndrome born to a mother with Noonan syndrome. This is suggestive of cardio-facio-cutaneous syndrome being a variable expression of Noonan syndrome.

背景与目标： : 心-面-皮肤综合征的特征是复杂的先天性心脏病，特征性的相，外胚层异常，生长衰竭和智力低下。它被描述为Noonan综合征的独特实体。本文介绍了一名患有Noonan综合征的母亲所生的心-面-皮肤综合征的孩子。这提示心-面-皮肤综合征是Noonan综合征的可变表达。

BACKGROUND & AIMS: :This study was designed to evaluate the influence of genetic markers on the seropositivity of offspring of HTLV-I positive mothers in Tumaco, Colombia, an endemic area for HTLV-I infection and a site where there exists a racially mixed population of Black and Caucasian ancestors. 33 HTLV-I seropositive women with at least one offspring were studied. A total of 111 offspring were tested using hemaglutination-inhibition for testing sera for the allotypic markers G1m (1, 2, 3, 17) and G3m (5, 6, 13, 21). Potential risk factors such as mother s age at child's birth, mother's age at the time of the study, breastfeeding months, TSP vs. asymptomatic HTLV-I carrier, sibship's size, children's age and sex, were not found to be associated with mother to child transmission. Mother's Negroid genetic marker genotype (1, 17, 5, 13/1, 17, 5, +/- 13) was marginally associated with mother to child transmission of HTLV-I (P=0.0057; OR=11.97; CI=0.92-155.96)

背景与目标： : 这项研究旨在评估遗传标记对哥伦比亚图马科htlv-i阳性母亲后代血清阳性的影响，哥伦比亚图马科是htlv-i感染的流行地区，并且存在黑人和白人的种族混合人口祖先。研究了33名htlv-i血清阳性妇女，至少有一个后代。使用血凝抑制测试了总共111个后代，以测试血清中的异型标记G1m (1、2、3、17) 和G3m (5、6、13、21)。未发现潜在的危险因素，例如母亲出生时的年龄，研究时的母亲年龄，母乳喂养月份，TSP与无症状的htlv-i携带者，同胞的大小，儿童的年龄和性别与母婴传播有关。母亲的Negroid遗传标记基因型 (1、17、5、13/1、17、5、 +/- 13) 与htlv-i的母婴传播呈轻微相关性 (P = 0.0057; OR = 11.97; CI = 0.92-155.96)

BACKGROUND & AIMS: INTRODUCTION:Long-term storage of biological materials is a critical component of any epidemiological study. In designing specimen repositories, efforts need to balance future needs for samples with logistical constraints necessary to process and store samples in a timely fashion. OBJECTIVES:In the Norwegian Mother and Child Cohort Study (MoBa), the Biobank was charged with long-term storage of more than 380,000 biological samples from pregnant women, their partners and their children for up to 100 years. METHODS:Biological specimens include whole blood, plasma, DNA and urine; samples are collected at 50 hospitals in Norway. All samples are sent via ordinary mail to the Biobank in Oslo where the samples are registered, aliquoted and DNA extracted. DNA is stored at -20 degrees C while whole blood, urine and plasma are stored at -80 degrees C. RESULTS:As of July 2006, over 227,000 sample sets have been collected, processed and stored at the Biobank. Currently 250-300 sets are received daily. An important part of the Biobank is the quality control program. CONCLUSION:With the unique combination of biological specimens and questionnaire data, the MoBa Study will constitute a resource for many future investigations of the separate and combined effects of genetic, environmental factors on pregnancy outcome and on human morbidity, mortality and health in general.

背景与目标：

BACKGROUND & AIMS: :A case of a pregnancy occurring in a woman with previously diagnosed Wegener's granulomatosis and the following neonatal follow-up are described. Complete clinical and laboratory disappearance of disease activity was achieved by steroid treatment before pregnancy. The newborn was followed up for 6 months; he always showed normal clinical and laboratory exams, except a mild and transient neutropenia.

背景与目标： : 描述了先前诊断为韦格纳肉芽肿病的妇女的妊娠病例，并进行了以下新生儿随访。怀孕前通过类固醇治疗可实现疾病活动的完全临床和实验室消失。对新生儿进行了6个月的随访; 除了轻度和短暂的中性粒细胞减少症外，他始终表现出正常的临床和实验室检查。

BACKGROUND & AIMS: BACKGROUND:As the global under-five mortality rate declines, an increasing percentage is attributable to early neonatal mortality. A quarter of early neonatal deaths are due to perinatal asphyxia. However, neonatal resuscitation (NR) simulation training in low-resource settings, where the majority of neonatal deaths occur, has achieved variable success. In Bihar, India, the poorest region in South Asia, there is tremendous need for a new approach to reducing neonatal morality. METHODS:This analysis aims to assess the impact of a novel in-situ simulation training program, developed by PRONTO International and implemented in collaboration with CARE India, on NR skills of nurses in Bihar. Skills were evaluated by clinical complexity of the simulated scenario, which ranged from level 1, requiring NR without a maternal complication, to level 3, requiring simultaneous management of neonatal and maternal complications. A total of 658 nurses at 80 facilities received training 1 week per month for 8 months. Simulations were video-recorded and coded for pre-defined clinical skills using Studiocode™. RESULTS:A total of 298 NR simulations were analyzed. As simulation complexity increased, the percentage of simulations in which nurses completed key steps of NR did not change, even with only 1-2 providers in the simulation. This suggests that with PRONTO training, nurses were able to maintain key skills despite higher clinical demands. As simulation complexity increased from level 1 to 3, time to completion of key NR steps decreased non-significantly. Median time to infant drying decreased by 7.5 s (p = 0.12), time to placing the infant on the warmer decreased by 21.7 s (p = 0.27), and time to the initiation of positive pressure ventilation decreased by 20.8 s (p = 0.12). Nevertheless, there remains a need for improvement in absolute time elapsed between delivery and completion of key NR tasks. CONCLUSIONS:PRONTO simulation training enabled nurses in Bihar to maintain core NR skills in simulation despite demands for higher-level triage and management. Although further evaluation of the PRONTO methodology is necessary to understand the full scope of its impact, this analysis highlights the importance of conducting and evaluating simulation training in low-resource settings based on simultaneous care of the mother-infant dyad.

背景与目标：

BACKGROUND & AIMS: BACKGROUND:In a randomized controlled trial (RCT) with 8402 stable low birthweight (LBW) infants, majority being late preterm or term small for gestational age, community-initiated KMC (ciKMC) showed a significant improvement in survival. However, the effect of ciKMC on neurodevelopment is unclear. This is important to elucidate as children born with low birth weight are at high risk of neurodevelopmental deficits. In the first 552 stable LBW infants enrolled in the above trial, we evaluated the effect of ciKMC on neurodevelopmental outcomes during infancy. METHOD:This RCT was conducted among 552 stable LBW infants, majorly late preterm or term small for gestational age infants without any problems at birth and weighing 1500-2250 g at birth. The intervention comprised of promotion of skin-to-skin contact and exclusive breastfeeding by trained intervention delivery team through home visits. The intervention group mother-infant-dyads were supported to practice ciKMC till day 28 after birth or until the baby wriggled-out. All infants in the intervention and control groups received Home Based Post Natal Care (HBPNC) visits by government health workers. Cognitive, language, motor and socio-emotional outcomes were assessed at infant-ages 6- and 12-months using Bayley Scale of Infant Development (BSID-III). Other outcomes measured were infant temperament, maternal depression, maternal sense of competence, mother-infant bonding and home-environment. We performed post-hoc equivalence testing using two one-sided tests of equivalence (TOST) to provide evidence that ciKMC does not do harm in terms of neurodevelopment. RESULTS:In the intervention arm, the median (IQR) time to initiate ciKMC was 48 (48 to 72) hours after birth. The mean (SD) duration of skin-to-skin-contact was 27.9 (3.9) days with a mean (SD) of 8.7 (3.5) hours per day. We did not find significant effect of ciKMC on any of the child developmental outcomes during infancy. The TOST analysis demonstrated that composite scores for cognitive, language and motor domains at 12 months among the study arms were statistically equivalent. CONCLUSION:Our study was unable to capture any effect of ciKMC on neurodevelopment during infancy in this sample of stable late preterm or term small for gestational age infants. Long term follow-up may provide meaningful insights. TRIAL REGISTRATION:The trial is registered at clinicaltrials.gov NCT02631343 dated February 17, 2016; Retrospectively registered.

背景与目标：

BACKGROUND & AIMS: :This article provides a synthesis of clinical trial data with an aim to deduce the timing of mother-to-child transmission of HIV-1. Because transmission of the infection to the infant through breastfeeding is one of the main challenges in fighting paediatric HIV/AIDS in the developing world, we present separate estimates for the timing of HIV transmission for non-breastfeeding and breastfeeding populations. Our estimates predict that, for non-breastfeeding populations, 50% of HIV infections are transmitted to the infant at the very end of pregnancy, near to the time of labour. For breastfeeding populations, the postnatal period accounts for most of the HIV infections transmitted to the infant. We discuss the potential benefit of exclusive breastfeeding for the first 6 months of life as a policy to decrease the magnitude of HIV transmission. Furthermore, we present the hypothesis, based on recent research findings of viral latency, that the time when a fetus initially encounters the virus might not be when infection is established. We discuss the implications of this hypothesis and how it could lead to new interventions for the prevention of mother-to-child HIV transmission.

背景与目标： : 本文提供了临床试验数据的综合，旨在推断HIV-1母婴传播的时间。由于通过母乳喂养向婴儿传播感染是发展中国家抗击儿科艾滋病毒/艾滋病的主要挑战之一，因此我们对非母乳喂养和母乳喂养人群的艾滋病毒传播时间提出了单独的估计。我们的估计预测，对于非母乳喂养的人群，50% 的艾滋病毒感染会在怀孕结束时 (接近分娩时) 传播给婴儿。对于母乳喂养的人群，产后时期占传播给婴儿的大部分艾滋病毒感染。我们讨论了在出生后的头6个月内进行纯母乳喂养的潜在好处，以减少HIV传播的幅度。此外，我们根据最近对病毒潜伏期的研究发现提出了假设，即胎儿最初遇到病毒的时间可能不是确定感染的时间。我们讨论了该假设的含义，以及它如何导致预防母婴HIV传播的新干预措施。

BACKGROUND & AIMS: BACKGROUND:Nutrition and environmental factors are essential for the education of the neonatal immune system. Epidemiological evidence has shown that malnutrition and allergic diseases that occur during early childhood share similar protective and risk factors. This paper describes the protocol of the Mother and Infant Cohort Study (MICOS), which aims to determine the contribution of early nutrition to the development of malnutrition and allergic diseases in infants' first year of life. METHODS:MICOS is a prospective cohort study conducted at selected government health clinics in two states, namely Selangor and Wilayah Persekutuan Kuala Lumpur, Malaysia. Women in their third trimester of pregnancy are recruited into the study and their infants will be followed-up at 3, 6, and 12 months of age. Information on prenatal factors including socio-demographic characteristics, obstetric history, pre-pregnancy body mass index, gestational weight gain, smoking, family history of allergic diseases, maternal dietary intake and sunlight exposure during pregnancy are obtained through face-to-face interviews. Postnatal factors including dietary intake, sun exposure, and anthropometric measurements of the mothers, as well as feeding practices, dietary intake, anthropometric measurements, and development of allergic diseases of the infants are assessed at each follow-up. Blood samples are collected from the mothers in the third trimester to determine 25-hydroxyvitamin D levels as well as from the infants at age 12 months to determine atopic sensitisation. DISCUSSION:The concept of developmental origins of health and disease (DOHaD) which emphasises on the role of early life environments in shaping future health and disease susceptibility in adulthood has gained a huge interest in recent years. The DOHaD paradigm has influenced many fields of research including malnutrition and allergic diseases. While findings from the developed countries remain controversial, such studies are scarce in developing countries including Malaysia. The present study will determine the cause and effect relationship between early nutrition and the development of malnutrition and allergic diseases in infants' first year of life.

背景与目标：

BACKGROUND & AIMS: OBJECTIVE:To determine the percentage of infected children for whom nevirapine (NVP) was used to prevent peripartum mother-to-child transmission (MTCT) of HIV in Yaoundé, Cameroon. DESIGN:The study was a prospective Public Health Pilot Program covering a 3-year period (January 2000-December 2002). METHODS:Counseled and consenting HIV-1-positive pregnant women were given a single dose of NVP at the onset of labor. Babies were given 2 mg/kg NVP syrup within the first 72 hours of life. NVP-treated children were regularly followed up and examined for HIV-1 infection at 6-8 weeks and 5-6 months through plasma viral load (VL) quantification with the bDNA system. RESULTS:One hundred twenty-three children were diagnosed with perinatal HIV-1 infection at 6-8 weeks and 5-6 months. Thirteen children (10.6% [13/123]; 95% confidence interval, 5.1-16) were infected and presented with high VLs, in general >500,000 copies/mL. Two children had intermediate VLs (between 50 and 3500 copies/mL) at both time points. One hundred seven children (87%) were considered not infected at 6-8 weeks of age. CONCLUSIONS:Our results indicate that the HIV-1 MTCT rate 6-8 weeks after NVP administration was not >13% (16/123), thus demonstrating the effectiveness of NVP for lowering the risk of HIV-1 MTCT in real-life settings.

背景与目标：

BACKGROUND & AIMS: OBJECTIVE:to explore the maternal and neonatal effects of fentanyl administered subcutaneously to women during labour. DESIGN:two methods were used: (1) A retrospective audit of the birth register and maternal and neonatal records for the period from January 2000 to December 2007. (2) A pilot study was also conducted on a convenience sample of women between July 2008 and October 2008. SETTING:this study was conducted within a maternity unit at a rural South Australian hospital where approximately 350 babies are birthed each year. PARTICIPANTS:audit participants included women who had uncomplicated pregnancies and birthed at term (37-42 weeks gestation). Women in the experimental group consisted of those who had utilised only subcutaneous fentanyl for pain relief (n=75), or nitrous oxide and oxygen prior to being administered subcutaneous fentanyl (n=196). Stratified random selection based on parity and age was used to determine the control group, which consisted of women who used no pharmacological pain relief (n=196). The pilot study involved a convenience sample of women (n=10) assessed to have an uncomplicated pregnancy and labour occurring at term (≥37 weeks gestation). MEASUREMENTS:audit variables examined included the women's age, parity, labour duration, mode of birth (spontaneous or assisted), analgesia used, total dosage, time administered prior to birth, time of birth, neonatal Apgar scores, time to establish breathing, naloxone use, days spent in hospital post-birth and breast-feeding outcomes upon discharge. The pilot study explored maternal effects assessed pre- and 30 minutes post-administration of subcutaneously administered fentanyl by observing pain scores, vital signs, sedation levels, nausea/vomiting scores and anti-emetic use. To assess possible adverse effects in the neonate Apgar scores, time to establish respiration, naloxone use, transfer to neonatal nursery and breast-feeding outcomes upon discharge were recorded. FINDINGS:women in the experimental groups were more likely to be induced, experienced a longer duration of labour and had an increased likelihood of an assisted vaginal birth. The average total dose of fentanyl administered was 250 μg. Neonatal outcomes were comparable between groups when examining Apgar scores <7 at 1 and 5 minutes and time to establish breathing. There was, however, a significant difference with naloxone administration between the groups. There was no significant difference between groups in hospital stay or breast-feeding on discharge. The pilot study identified a clinically significant reduction in pain scores for 78% of women following the administration of subcutaneous fentanyl, with the average pain score decreasing from 8.4 (±1.4) to 7.2 (±1.1) (paired t-test, p=0.017). Vital signs were not affected, no anti-emetics were required and all women remained alert with no sedation noted. KEY CONCLUSIONS:the audit identified fentanyl use was associated with a longer length of labour, but this may be explained by more women in the experimental groups requiring induction of labour than those in the control group. However, length of hospital stay, breast-feeding rates and neonatal outcomes were comparable amongst the three groups. Results of the pilot study are consistent with those of the audit in relation to the effects on mother and neonate. In addition, the pilot study begins to provide evidence that fentanyl is efficacious in providing pain relief. IMPLICATIONS FOR PRACTICE:results of this study are the first to explore the effects of fentanyl administered subcutaneously to women during labour. This method of analgesia offers women an additional choice of pain relief during childbirth and may be particularly beneficial in remote and rural settings where resources are often limited and access to specialist services difficult. Further research, however, is required to be able to generalise the outcomes and provide further data to support the clinical effectiveness of this route of administration of fentanyl.

背景与目标：

BACKGROUND & AIMS: :This article is for women who ask whether it is possible to combine motherhood with academia and still be successful and happy. It is also for those working with, bosses of, or married to such women, giving them a better feel for the challenges mothers in academia face, and the strategies that can be used to survive and thrive in both of these worlds.

背景与目标： : 本文是针对那些询问是否有可能将母性与学术界结合起来并仍然成功和幸福的女性。这也是为那些与这些女性一起工作、与之结婚或与之结婚的人准备的，让她们更好地感受到学术界母亲面临的挑战，以及可以用来在这两个世界生存和茁壮成长的策略。

BACKGROUND & AIMS: SUMMARY OBJECTIVES:To determine factors associated with pregnant women being HIV positive, barriers to the uptake of single-dose nevirapine (sdNVP) for prevention of mother-to-child transmission (PMTCT) and feasibility and effectiveness of reporting HIV-exposed infants born in facilities with no PMTCT services so as to receive NVP. METHODS:From 2002 to 2007, a sdNVP PMTCT service was implemented in 53 rural villages of south-west Uganda. Twenty-five of them were HIV-surveillance study villages. The proportions of mothers testing positive and mother and newborns receiving and ingesting sdNVP and associated factors were determined. RESULTS:Women with incomplete primary or no education, aged 25-34 years or not living with their partners were at increased risk of being HIV infected. Seventy-seven percentage of pregnant women with HIV (PWH) received therapy. Of the 63 PWH who received therapy and had surviving live births, only 39 (62%) reported births and received newborn prophylaxis within 72 h. Women were more likely to collect and ingest NVP if they were from study villages, preferred home administration of newborn NVP or presented at a more advanced stage of pregnancy. Newborns were more likely to be reported and receive NVP if mothers were aged 25-34 years, on antiretroviral therapy (ART) or came from study villages. CONCLUSIONS:The uptake of PMTCT services was unacceptably low. Asking PWH with less advanced pregnancies to return to collect NVP leads to missed opportunities especially if PWH are less educated. Birth reporting enabled the programme to provide NVP to some infants who otherwise would have missed. Antenatal, delivery and PMTCT services should be integrated.

背景与目标：

BACKGROUND & AIMS: :A recent study has found that carrying - not just holding - by human mothers has a specific calming effect on crying infants, inducing a coordinated physiological response that includes a reduction in heart rate. A similar response in mice has opened the door to elucidating the underlying neural mechanisms.

背景与目标： : 最近的一项研究发现，人类母亲携带 (不仅仅是抱着) 对哭泣的婴儿具有特定的镇静作用，从而引起协调的生理反应，包括心率降低。小鼠的类似反应为阐明潜在的神经机制打开了大门。