Changes in serum bone turnover markers and bone mineral density Z-score in children with osteogenesis imperfecta after zoledronic acid treatment.

The study aimed to investigate the changes in the levels of serum bone turnover markers (BTMs) and bone mineral density (BMD) Z-score in pediatric patients with osteogenesis imperfecta (OI) after intravenous bisphosphonate therapy, and their association with age and estimated glomerular filtration rate (eGFR).This retrospective study analyzed data from 10 pediatric OI patients treated with intravenous zoledronic acid for over one year. Patients' clinical data were collected. The levels of bone turnover markers, and BMD Z-score before and after zoledronic acid treatment were analyzed. Significant improvement in BMD Z-score was observed after 6 and 12 months of treatment compared to baseline (all p < 0.05). The N-terminal propeptide of type I procollagen (PINP) levels decreased over time (all p < 0.05), indicating that zoledronic acid treatment decreased bone turnover. The levels of beta-C-terminal telopeptide of type I collagen (ß-CTX) remained stable after treatment. No correlation was found between PINP level and age, eGFR, or BMD (all p > 0.05). Bisphosphonate treatment can improve BMD and decrease bone turnover (indicated by decrease levels of PINP) in pediatric OI patients. PINP may serve as an independent indicator for monitoring the efficacy of bisphosphonate treatment in pediatric OI patients, particularly in those under the age of 6, where standardized BMD Z-score criteria are lacking.

Ocular manifestation of vertical transmission of dengue: case report / Manifestação ocular de transmissão vertical de dengue: relato de caso

ABSTRACT A 7-week-old male delivered by cesarean section presented with a positive serology for dengue along with preretinal and retinal hemorrhages, vitreous opacities and cotton wool spots. The patient and his mother had positive serologies for Non Structural Protein 1 (NS1) by ELISA. Retinal and vitreous findings improved over a sixteen-week period. Spectral domain optical coherence tomography (OCT) showed preserved macular architecture. In this case report, we suggest that retinal and vitreous changes may be the ocular presenting features of vertically transmitted dengue in newborns, and that those findings may resolve with no major structural sequelae.

RESUMO Neonato de 7 semanas, do sexo masculino, nascido de parto cesárea, apresentou sorologia positiva para dengue com hemorragias retinianas e pré-retinianas, opacidades vítreas e manchas algodonosas. O paciente e sua mãe haviam apresentado sorologias positivas para Non Structural Protein 1 através de ELISA. Achados na retina e no vítreo melhoraram em um período de dezesseis semanas. O exame de tomografia de coerência óptica de domínio espectral demonstrou arquitetura macular preservada. Neste relato de caso, sugerimos que alterações na retina e no vítreo podem ser os achados oculares aparentes em neonatos com infecção vertical por dengue, e que estes podem se resolver sem maiores sequelas estruturais.

Molecular diagnosis of tuberous sclerosis complex in fetuses and infants: an institutional case series.

OBJECTIVE: We describe the clinical and genetic characteristics of fetuses and infants diagnosed with tuberous sclerosis complex (TSC) in our centre, prenatally or neonatally, for a better understanding of the benefits of early screening. METHODS: In this retrospective study, we analysed the data on one fetus and nine infants with a definitive TSC diagnosis by genetic criteria (five patients carrying TSC1 variants and 5 patients carrying TSC2 variants). We explored the differences between phenotypes of patients carrying TSC1 and TSC2 pathogenic variants. RESULTS: The most common initial presenting features of TSC were cardiac rhabdomyomas (CRs) that were observed in nine out of ten patients. The most common postnatal features, besides CR, were presented with subependymal nodules-in five patients, and hypomelanotic macules-in four patients. In total, 10 variants causing TSC were detected in this study, including 5 novel variants. We demonstrated that patients with TSC2 variants had earlier onset and more severe clinical manifestations compared with patients carrying TSC1 variants. CONCLUSION: Early diagnosis of TSC improves genetic counselling and perinatal management.

Call for a More Specific Diagnosis of Infant of a Diabetic Mother to Optimize Neonatal Care.

Hyperglycemia is the diagnostic feature of diabetes mellitus (DM), and during pregnancy, hyperglycemia has numerous serious implications for organogenesis and fetal growth. Each type of DM has different neonatal implications based on pathogenesis, length of disease, and comorbidities. Currently, limited attention is given to the woman's type of DM when evaluating risks for neonates. The diagnosis of infant of a diabetic mother is not sufficient because of the varying pathophysiology of diabetes classifications and associated neonatal outcomes. By expanding the diagnosis to include the woman's classification and glucose control, maternity and neonatal care providers could develop plans of care based on potential neonatal outcomes, including anticipatory guidance for families. In this commentary, we propose a more specific diagnosis, rather than infant of a diabetic mother, to better serve these infants.

Treatment of Congenital Afibrinogenemia in a Neonate With Critical Pulmonary Stenosis.

Fibrinogen deficiencies in neonates can lead to bleeding complications. In this report, we describe a case of congenital afibrinogenemia in a newborn with critical pulmonary stenosis who presented with bilateral cephalohematomas after an uncomplicated delivery. The initial use of cryoprecipitate was followed by administration of fibrinogen concentrate. We estimated a half-life of 24 to 48 hours with the concentrate product. This patient received fibrinogen replacement and had a subsequent successful cardiac repair. The drug's shorter half-life in this neonate contrasts with prior reports of longer half-life in older patients and is important to note in treating future neonatal patients with this diagnosis.

Clinical analysis of 172 cases of neonatal death after giving up treatment / 中国医师杂志

Objective:To summarize the situation of dead newborns and their parents after parents gave up treatment, and analyze the reasons and emotional needs of parents who gave up treatment, so as to provide reference for reducing neonatal mortality and negative emotions of parents.Methods:A retrospective study was conducted to collect the data of neonates and mothers who died after giving up treatment reported in Hunan Children′s Hospital from January 2019 to December 2021. The general information, perinatal risk factors, and the incidence of in-hospital diseases were analyzed. Then, semi-structured interviews were conducted with parents of newborns who died after giving up treatment from February to December 2021. Understand why parents give up treatment and their emotional needs.Results:A total of 172 newborns died after giving up were included in the analysis, including 103 males (59.88%) and 74 premature infants (43.02%); Umbilical cord, placenta and amniotic fluid abnormalities were 21 cases (12.21%), 39 cases (22.67%) and 25 cases (14.53%), respectively. Birth asphyxia was 31 cases (18.02%), including severe asphyxia in 18 cases (10.46%); There were 21 (12.21%), 35 (20.35%) and 30 (17.44%) cases of maternal infection in the third trimester, hypertension in pregnancy and diabetes in pregnancy, respectively. The top three causes of death were septicemia (18.02%), congenital malformation (16.86%) and severe pneumonia (10.47%). The main reason why parents give up treatment was that the child′s disease was critical and irreversible, and parents had strong emotional needs for hospice care in their hearts.Conclusions:There are many high risk factors of perinatal death of newborns after giving up treatment. Sepsis is the primary cause of death, and strengthening perinatal health care is fundamental. Parents have a strong demand for hospice care, so it is of practical significance to implement family-centered hospice care model for such special newborns.

Desfechos maternos e neonatais em servidoras públicas estaduais de São Paulo com idade materna avançada / Maternal and neonatal outcomes in state public servants of São Paulo with advanced maternal age

Objetivo: Caracterizar a população das gestantes em diferentes faixas etárias; avaliar desfechos maternos e neonatais em pacientes com idade materna avançada; determinar a faixa etária a partir da qual os desfechos adversos foram mais prevalentes. Métodos: Parturientes atendidas no Hospital do Servidor Público Estadual de São Paulo entre junho/2019 e maio/2020 foram divididas em três grupos ­ 20 a 34 anos; 35 a 39 anos; 40 anos ou mais ­ e analisadas quanto a diversas variáveis. Resultados: Entre as gestantes do Serviço, 44,2% tinham idade materna avançada. A amostra foi composta por 927 pacientes, a maioria com relacionamento conjugal estável (75,2%) e ensino de nível superior (74,7%). Independentemente do grupo etário, foram observados elevados índices de obesidade (25,9%), sobrepeso (39,7%) e cesariana (76,4%). A frequência de iteratividade, diabetes gestacional e doença hipertensiva específica da gestação foi maior a partir dos 35 anos, e a frequência de hipertensão arterial crônica foi maior a partir dos 40 anos. Neonatos de pacientes com 40 anos ou mais tiveram maiores índices de baixo peso ao nascer, óbito neonatal, Apgar de quinto minuto < 7 e necessidade de reanimação neonatal. Conclusão: Pacientes com idade materna avançada representaram porcentagem expressiva da população e tiveram maior frequência de desfechos adversos. Complicações obstétricas foram mais prevalentes a partir dos 35 anos, com destaque para diabetes gestacional e distúrbios hipertensivos. Resultados neonatais desfavoráveis, como baixo peso ao nascer e óbito neonatal, foram mais prevalentes a partir de 40 anos.

Objective: Featuring the population of pregnant women in different age groups; assessing maternal and neonatal outcomes in patients at advanced maternal age; determining the threshold age for the potential prevalence of adverse outcomes. Methods: Women in labor assisted at Hospital do Servidor Público Estadual de São Paulo between June/2019 and May/2020 were divided into three age groups ­ 20 to 34 years; 35 to 39 years; over 40 years ­, who were assessed for several variables. Results: 44.2% of pregnant women in this Service were at advanced maternal age. The sample counted on 927 patients, most of them declared stable marital relationships (75.2%) and College degree (74,7%). High obesity levels (25.9%), overweight (39.7%) and cesarean delivery (76.4%) were observed, regardless of age group. Maternal request was the main indication for cesarean surgery. Iteration frequency, gestational diabetes and pregnancy-specific hypertensive disease was higher from the age of 35 years, on. Chronical high blood pressure was higher in the age group over 40 years. Newborns from patients older than over 40 years presented higher low weight at birth index, neonatal death, 5th minute Apgar score < 7 and the need of neonatal resuscitation. Conclusion: Patients at advanced maternal age recorded higher obstetric adversity frequency in the age group over 35 years, with emphasis on gestational diabetes and high blood pressure. Unfavorable neonatal outcomes related to low weight at birth and neonatal death were more prevalent in the age group over 40 years.

Seroprevalence of antibodies against to SARS-CoV 2 in umbilical cord blood in two hospital centers in Córdoba and Sucre, Colombia.

INTRODUCTION: Pregnant women continue to be vulnerable to COVID-19, and their immunosuppressed state could put them at greater risk of developing more severe forms of the disease. In Colombia and Latin America, there are few studies on the immune response of the newborn against SARS-CoV-2. AIM: To determine the prevalence of SARS-CoV-2 infection in umbilical cord blood in two hospital centers in Córdoba and Sucre. METHODS: Between March and June 2021, a prospective descriptive cross-sectional study was carried out. Two hospitals from the departments of Córdoba and Sucre, located in the Northwest Caribbean area of Colombia, participated. Three hundred sixty umbilical cord blood samples were taken at the two hospitals. A commercial ELISA was performed to detect total IgG, IgM, and IgA antibodies against the N protein of SARS-CoV-2. The ethics committee approved the study of the participating institutions. RESULTS: Of 3.291 women who gave birth in the hospital centers included in the study, 360 (11%) participated. Complete clinical data were obtained for 223 women. The mean age of the women was 24 years (range, 15-42). 29.4% (106/360) of the umbilical cord samples had total antibodies against SARS-CoV-2. Pregnant women did not have blood samples taken. 58% of the women were asymptomatic. There was no association between umbilical cord samples, clinical, epidemiological characteristics, and serological response to antibodies to SARS-CoV-2 (p > 0.05). CONCLUSIONS: The prevalence of umbilical cord blood samples was 29.4% for total SARS-CoV-2 antibodies. The study provides essential aspects for the epidemiological approach to neonates infected with SARS-CoV-2.

Neurodesarrollo en recién nacidos de muy bajo peso nacidos en Matanzas en el periodo 2016-2018

RESUMEN Fundamento La comparación de los resultados del neurodesarrollo en recién nacidos de muy bajo peso según cohortes de años de nacimiento permite evaluar el impacto de las diferentes intervenciones llevadas a cabo para prevenir y tratar las afecciones más frecuentes en este grupo de pacientes durante el período perinatal y neonatal, así como de las diferentes condiciones y enfermedades que se presentan en estas etapas del desarrollo. Objetivo evaluar el neurodesarrollo a los dos años de edad corregida en una cohorte de recién nacidos de muy bajo peso. Métodos estudio observacional prospectivo, que incluyó a recién nacidos pretérminos con peso al nacer <1500 g egresados vivos del Hospital Docente Ginecobstétrico Provincial de Matanzas, en el período 2016-2018, y que hubieran completado su seguimiento en consulta de neurodesarrollo a los dos años de edad corregida (N=52). Los datos contenidos en las historias clínicas fueron almacenados en una base de datos (SPSS v. 22.0), a partir de la cual se realizó el procesamiento estadístico. Se consideró significativo todo valor p <0,05. Resultados a los dos años de edad corregida, el 90 % de los pacientes eran normales; las alteraciones mayores y menores se encontraron, respectivamente, en 2 y 8 % de los casos. Las convulsiones neonatales clínicas se asociaron significativamente con la ocurrencia de alteraciones del neurodesarrollo. Conclusión La incidencia de alteraciones del neurodesarrollo a los dos años de edad corregida en recién nacidos de muy bajo peso en Matanzas fue menor en el período estudiado, en relación a años anteriores, aunque este hallazgo no resultó estadísticamente significativo.

ABSTRACT Background The comparison of neurodevelopmental results in very low birth weight newborns according to birth year cohorts allows evaluating the impact of the different interventions carried out to prevent and treat the most frequent conditions in this group of patients during the perinatal period and neonatal, as well as the different conditions and diseases that occur in these stages of development. Objective to evaluate neurodevelopment at two years of corrected age in a cohort of very low birth weight newborns. Methods prospective observational study, which included preterm newborns with birth weight <1500 g discharged alive from the Provincial Gynecobstetric Teaching Hospital of Matanzas, in the period 2016-2018, and who had completed their follow-up in a neurodevelopment consultation at two years old corrected age (N=52). The data contained in the medical records were stored in a database (SPSS v. 22.0), from which the statistical processing was performed. Any value p<0.05 was considered significant. Results at two years old of corrected age, 90% of the patients were normal; major and minor alterations were found, respectively, in 2 and 8% of cases. Clinical neonatal seizures were significantly associated with the occurrence of neurodevelopmental abnormalities. Conclusion The incidence of neurodevelopmental disorders at two years old of corrected age in very low birth weight newborns in Matanzas was lower in the period studied, in relation to previous years, although this finding was not statistically significant.

Clinical and epidemiological characterization of newborns with necrotizing enterocolitis / Caracterização clínica e epidemiológica de recém-nascidos com enterocolite necrosante

INTRODUCTION: Necrotizing enterocolitis (NEC) is a severe inflammatory disorder that can affect the whole gastrointestinal system, particularly the ileum, and is a major cause of morbidity in premature infants. OBJECTIVE: To describe the clinical and epidemiological profile of newborns with NEC, seeking to identify the causes, evolution and severity of the disease. METHODS: The study selected 94 patients who developed NEC (cases) and 60 patients who did not develop the disease during hospitalization (controls) and presented similar clinical signs of the case group. The variables analyzed divided into maternal and neonatal. The frequency tests were applied using the Statistical Package for the Social Sciences (SPSS) version 21.0 and comparative analysis using the GraphPad Prism® 5.0 software. RESULTS: There was a higher number of prenatal consultations in cases with NEC. Newborns with NEC had shorter hospital stay, longer parenteral nutrition and antibiotics use and a predominant use of infant formula. The Bell criteria modified by Walsh and Kleigman was negatively correlated to maternal age and positively correlated to gestational age, birth weight and time of parenteral nutrition. CONCLUSION: Although being a disease of the newborn, the present study indicated that maternal characteristics may be related to its onset of NEC. Therefore, the greater number of prenatal consultations and neonatal factors such as length of stay, prolonged use of parenteral nutrition and antibiotic therapy, and formula use may influence the development of the disease.

INTRODUÇÃO: A Enterocolite Necrosante (ECN) é um grave distúrbio inflamatório que pode afetar todo o sistema gastrointestinal, em particular o íleo, é uma causa de morbiletalidade em prematuros. OBJETIVO: Delinear o perfil clínico-epidemiológico de recém-nascidos com ECN, buscando identificar as causas, modo de evolução e gravidade da doença. MÉTODOS: Foram selecionados 94 pacientes que desenvolveram ECN (casos) e 60 pacientes que não desenvolveram a doença no período de internação (controles) e apresentavam sinais clínicos semelhantes do grupo caso. As variáveis analisadas foram classificadas em maternas e neonatais. Foram realizados testes de frequência usando o programa Statistical Package for the Social Sciences (SPSS) versão 21.0 e análise comparativa usando o teste programa GraphPad Prism® 5.0. RESULTADOS: Nos casos com ECN houve maior número de consultas pré-natal. Os recém-nascidos com ECN apresentaram menor tempo de internação, maior tempo de nutrição parenteral e uso de antibióticos tiveram predomínio no uso de fórmula infantil. A classificação modificada de Bell por Walsh and Kleigman apresentou correlação negativa com idade materna e positiva com idade gestacional, peso ao nascer e o tempo de nutrição parenteral. CONCLUSÃO: Apesar de ser uma doença do recém-nascido, esse estudo sugere que características maternas podem ter relação com o aparecimento da ECN. O número maior de consultas pré-natal e os fatores neonatais como o tempo de internação, uso prolongado de nutrição parenteral, antibioticoterapia e uso de fórmulas pode influenciar o desenvolvimento da doença.

Primary cutaneous mucormycosis in a premature neonate treated conservatively with amphotericin B.

Cutaneous mucormycosis is a rare, often fatal fungal infection that most commonly affects patients with underlying immunosuppression but also can occur in premature neonates. We report the case of an extremely premature boy (<25 weeks) who developed primary cutaneous mucormycosis shortly after birth. Although surgical debridement has been a mainstay of treatment in combination with antifungal therapy, our patient was successfully treated with amphotericin B alone-the management only reported in three other cases to date. We present this case to highlight that prompt initiation of treatment with amphotericin B alone may be an appropriate alternative to surgical intervention, particularly in patients with non-angioinvasive disease who are poor surgical candidates.

Neoseq for neonatal screening of fatty acid oxidation disorders / 中华围产医学杂志

Objective:To explore the value of Neoseq in screening and diagnosis of neonatal fatty acid oxidation disorders (FAOD).Methods:A retrospective case-control study was conducted on 163 500 live births in Changzhou city from April 2015 to April 2021. The following two models were adopted for FAOD screening and diagnosis. (1) Traditional mode: Heel blood samples were obtained from all subjects for initial screening using tandem mass spectrum (TMS), followed by next-generation sequencing (NGS) and other differential diagnostic testings for those with positive results. (2) Neoseq: Neoseq was performed on the true positive, negative and false positive cases according to the traditional mode screening results. The detection rate, additional discovery, reporting period, and other parameters of the two models for FAOD were described and compared.Results:(1) Detection and diagnosis of FAOD: A total of 18 confirmed cases of FAOD were detected through the traditional model, with an incidence of 1/9 083 in Changzhou city. The positive rate was 0.55% (907/163 500) for initial TMS and 0.04% (73/163 500) for the second. The positive predictive value was 2.0%(18/907), with a false positive rate of 98%(889/907) in the initial screening. (2) The results of Neoseq: ①Pathogenic mutations were detected in 16 of the 18 confirmed cases, and the coincidence rate of mutation sites between the two methods was 16/18. The other two confirmed cases were missed diagnosed by Neoseq, including one β-ketothiolase deficiency with only one detected pathogenic mutation and one medium-chain acyl-CoA dehydrogenase deficiency without any detected pathogenic mutation. ②No pathogenic mutations were detected in the 57 false-positive cases by Neoseq. ③Among the 100 negative cases in initial screening, DUOX2 heterozygous mutation, and MTTL1 hemizygous mutation were detected in one case each. ④The median period of results reporting was 43.5 d (28-104 d) for the traditional mode and 12 d (10-15 d) for the Neoseq mode. Conclusions:Neoseq has a high detection rate for FAOD. Combined with TMS screening, Neoseq reduces the false-positive rate of biochemical screening, rapidly identifies genetic causes by shortening the results waiting time and covers diseases that couldn't be detected by traditional biochemical methods.

Presentación atípica de un neuroblastoma congénito metastásico con efecto renal grave: informe de caso / Atypical presentation of a congenital metastatic neuroblastoma with severe renal impact: case report

El neuroblastoma es un tumor derivado de la cresta neural. Se trata del tumor maligno más frecuente en recién nacidos y existe una amplia variabilidad en su forma de presentación. En algunos casos, el diagnóstico se realiza mediante un hallazgo ecográfico, mientras que en otros se manifiesta como enfermedad metastásica agresiva. Se presenta el caso de una paciente prematura con diagnóstico posnatal de neuroblastoma congénito metastásico con manifestaciones clínicas graves y evolución atípica. Asimismo, se destaca una lesión renal grave que requirió terapia dialítica.

Neuroblastoma is a neural crest-derived tumor and the most common malignant tumor in neonates. Its clinical presentation can be quite variable. In some cases, it presents as an aggressive metastatic disease whilst in others it is a finding in scans performed for other reasons. The following report presents the case of a premature newborn, diagnosed postnatally with metastatic congenital neuroblastoma, with an atypical and torpid course, including severe renal injury and dialysis requirement.

[Atypical presentation of a congenital metastatic neuroblastoma with severe renal impact: case report]. / Presentación atípica de un neuroblastoma congénito metastásico con efecto renal grave: informe de caso.

Neuroblastoma is a neural crest-derived tumor and the most common malignant tumor in neonates. Its clinical presentation can be quite variable. In some cases, it presents as an aggressive metastatic disease whilst in others it is a finding in scans performed for other reasons. The following report presents the case of a premature newborn, diagnosed postnatally with metastatic congenital neuroblastoma, with an atypical and torpid course, including severe renal injury and dialysis requirement.

El neuroblastoma es un tumor derivado de la cresta neural. Se trata del tumor maligno más frecuente en recién nacidos y existe una amplia variabilidad en su forma de presentación. En algunos casos, el diagnóstico se realiza mediante un hallazgo ecográfico, mientras que en otros se manifiesta como enfermedad metastásica agresiva. Se presenta el caso de una paciente prematura con diagnóstico posnatal de neuroblastoma congénito metastásico con manifestaciones clínicas graves y evolución atípica. Asimismo, se destaca una lesión renal grave que requirió terapia dialítica.

Developmental dysplasia of the hip: Beyond the screening. Physical exam is our pending subject.

INTRODUCTION: Developmental dysplasia of the hip is a common cause of disability among children. Early detection leads to better prognosis. There are some risk factors that increase the possibility of developing a dysplasia. But not every child with developmental dysplasia has them. This means that physical examination is still very useful to detect them. However, based on clinical findings, the amount of requested ultrasound seems higher than it would be necessary. METHODS: Retrospective cohort study of infants born in a single tertiary care centre. Babies in which hip ultrasound was performed were included. During the period of study, patients with diagnosis of developmental hip dysplasia were also included, as well as the amount of ultrasounds requested during this period, and their efficiency. RESULTS: Out of the 456 newborns included, 530 hip ultrasounds were performed. Just 3 of the total 12 dysplasias had risk factors. The others were diagnosed through clinical examination. CONCLUSIONS: Screening protocols are useful to detect hip dysplasia but clinical examination is very important to detect those cases without risk factors. However, the number of tests is higher than expected according to the diagnosed dysplasias.

Neurologic sequelae of severe chikungunya infection in the first 6 months of life: a prospective cohort study 24-months post-infection.

BACKGROUND: Perinatally chikungunya infected neonates have been reported to have high rates of post-infection neurologic sequelae, mainly cognitive problems. In older children and adults chikungunya does not appear to have sequelae, but data on postnatally infected infants are lacking. METHODS: We performed a prospective, non-controlled, observational study of infants infected before the age of 6 months with a severe chikungunya infection during the 2014-2015 epidemic in Curaçao, Dutch Antilles. Two years post-infection cognitive and motor - (BSID-III) and social emotional assessments (ITSEA) were performed. RESULTS: Of twenty-two infected infants, two died and two were lost to follow up. Eighteen children were seen at follow-up and included in the current study. Of these, 13 (72%) had abnormal scores on the BSID-III (cognitive/motor) or ITSEA. CONCLUSION: In the first study aimed at postnatally infected infants, using an uncontrolled design, we observed a very high percentage of developmental problems. Further studies are needed to assess causality, however until these data are available preventive measure during outbreaks should also include young infants. Those that have been infected in early infancy should receive follow up.

Congenital hyperextension deformity of the knees due to arthrogryposis multiplex congenita? case report

ABSTRACT Introduction: Arthrogryposis multiplex congenita is a disorder characterized by non-progressive joint contractures. It has an estimated prevalence of 1 in every 3 000-5 000 live births, with the same male-to-female ratio. Case presentation: This is the case of a male newborn with adequate prenatal care checkup appointments, who presented with a congenital deformity of the lower limbs. On physical examination, he had hyperextension of the knees (passive flexion of 20° in the left leg and 30° in the right leg), and painful active movement. On admission, peripheral pulses had good intensity, and adequate distal perfusion was found. Barlow and Ortolani maneuvers were negative, and no midline lesions were observed in the spine. The patient was diagnosed with arthrogryposis multiplex congenita and received multidisciplinary treatment to avoid early morbidity and mortality. Conclusion: To attain satisfactory clinical development in patients with arthrogryposis, it is essential to have a high level of antenatal suspicion, as well as appropriate prenatal checkups. All this allows for proper management, minimizing diagnostic errors, avoiding unnecessary procedures, and performing effective and timely treatment with outstanding results.

RESUMEN Introducción. La artrogriposis múltiple congénita es un desorden caracterizado por contracturas articulares no progresivas y que tiene una prevalencia estimada de 1 caso por cada 3 000-5 000 nacidos vivos con igual proporción entre géneros. Presentación del caso. Paciente masculino recién nacido con adecuados controles prenatales, quien al nacimiento presentó deformidad en miembros inferiores debido a hiperextensión de las rodillas (flexión pasiva de 20° en pierna izquierda y 30° en pierna derecha) que provocaba dolor a la movilización activa. Al ingreso se registró perfusión distal adecuada y pulsos periféricos simétricos y de buena intensidad; las maniobras de Ortolani y Barlow fueron negativas y no se evidenciaron lesiones en la línea media del dorso. El paciente fue diagnosticado con artrogriposis múltiple congénita y recibió tratamiento multidisciplinario que evitó morbi-mortalidad temprana. Conclusión. La sospecha prenatal, el examen físico exhaustivo y el diagnóstico diferencial son de vital importancia para lograr una evolución clínica satisfactoria en la artrogriposis múltiple congénita; con esto es posible hacer un manejo adecuado, minimizar los errores diagnósticos, evitar procedimientos innecesarios y realizar un tratamiento efectivo y oportuno con excelentes resultados.

[Perinatal COVID-19 in Latin America]. / COVID-19 perinatal en América Latina.

OBJECTIVE: To evaluate and report the clinical characteristics and outcomes of SARS-CoV-2 infection in pregnant women and newborns in Latin America. METHODS: Descriptive study based on the prospective report of the units of the Ibero-American Society of Neonatology Network. RESULTS: Of 86 pregnant women with COVID-19 confirmed by RT-PCR in seven countries (6 from Latin America, and Equatorial Guinea) 68% (59) were asymptomatic. Of 32% of symptomatic women, 89% (24) had mild symptoms and 3.5% (3) had severe respiratory symptoms. No women died. The cesarean section rate was 38%; gestational age was < 37 weeks in 6% of cases. RT-PCR was performed on all newborns between 16 and 36 hours of age; 6 (7%) were positive. All of them presented mild and transient respiratory distress; none died. Two newborns with negative RT-PCR died from other causes. Breastfeeding was authorized in only 24% of mothers; in 13% milk was expressed and 63% of newborns were fed with formula. In 76% of cases the motherchild pair was separated, and in 95% of cases the mother could not be accompanied at delivery or during the postpartum period. CONCLUSIONS: The lack of maternal accompaniment, the low rate of breastfeeding and the frequent separation of the mother-child dyad are of concern. The health care team must reflect on the need to defend humanized and family-centered care during this pandemic.

Congenital infections in Hong Kong: beyond TORCH.

Congenital infections refer to a group of perinatal infections that are caused by pathogens transmitted from mother to child during pregnancy (transplacentally) or delivery (peripartum) which may have similar clinical presentations, including rash and ocular findings. TORCH is the acronym that covers these infections (toxoplasmosis, other [syphilis], rubella, cytomegalovirus, herpes simplex virus). Other important causes of intrauterine/perinatal infection include human immunodeficiency virus, varicella-zoster virus, Treponema pallidum, Zika virus, and parvovirus B19. This overview aims to describe various congenital infections beyond TORCH with a Hong Kong perspective. Intrauterine and perinatal infections are a major cause of in utero death and neonatal mortality, and an important contributor to childhood morbidity. A high index of suspicion for congenital infections and awareness of the prominent features of the most common congenital infections can help to facilitate early diagnosis, tailor appropriate diagnostic evaluation, and initiate appropriate early treatment. Intrauterine infections should be suspected in newborns with clinical features including microcephaly, seizures, cataract, hearing loss, congenital heart disease, hepatosplenomegaly, small for gestational age, and/or rash. Primary prevention of maternal infections during pregnancy is key to the prevention of congenital infection, and resources (if available) should focus on public health promotion and pre-marital counselling.