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2021 ◽  
Vol 12 (1) ◽  
pp. 74-77
Author(s):  
Fahmida Zabeen ◽  
Najia Ferdoush

Complete androgen insensitivity syndrome (CAIS) is a rare X-linked recessive disorder resulting from maternally inherited or de novo mutations involving the androgen receptor (AR) gene. The AR is a vital steroid hormone receptor that has a critical role in male sexual differentiation and development and preservation of the male phenotype. The diagnosis of CAIS is based on the presence of female external genitalia in an individual with 46, XY karyotype having normally developed but undescended testes and target tissue unresponsiveness to androgen. Our case presented at the age of 2 months with asymmetric labia majora with bilateral labial mass. Ultrasonography revealed absence of female internal genital organs and presence of testes at labial folds. The child was found to have 46, XY karyotype. BIRDEM Med J 2022; 12(1): 74-77


NeoReviews ◽  
2021 ◽  
Vol 22 (12) ◽  
pp. e819-e836
Author(s):  
Amy G. Feldman ◽  
Ronald J. Sokol

Cholestatic jaundice is a common presenting feature of hepatobiliary and/or metabolic dysfunction in the newborn and young infant. Timely detection of cholestasis, followed by rapid step-wise evaluation to determine the etiology, is crucial to identify those causes that are amenable to medical or surgical intervention and to optimize outcomes for all infants. In the past 2 decades, genetic etiologies have been elucidated for many cholestatic diseases, and next-generation sequencing, whole-exome sequencing, and whole-genome sequencing now allow for relatively rapid and cost-effective diagnosis of conditions not previously identifiable via standard blood tests and/or liver biopsy. Advances have also been made in our understanding of risk factors for parenteral nutrition–associated cholestasis/liver disease. New lipid emulsion formulations, coupled with preventive measures to decrease central line–associated bloodstream infections, have resulted in lower rates of cholestasis and liver disease in infants and children receiving long-term parental nutrition. Unfortunately, little progress has been made in determining the exact cause of biliary atresia. The median age at the time of the hepatoportoenterostomy procedure is still greater than 60 days; consequently, biliary atresia remains the primary indication for pediatric liver transplantation. Several emerging therapies may reduce the bile acid load to the liver and improve outcomes in some neonatal cholestatic disorders. The goal of this article is to review the etiologies, diagnostic algorithms, and current and future management strategies for infants with cholestasis.


2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Jamie Hodgkins ◽  
Caley M. Orr ◽  
Claudine Gravel-Miguel ◽  
Julien Riel-Salvatore ◽  
Christopher E. Miller ◽  
...  

AbstractThe evolution and development of human mortuary behaviors is of enormous cultural significance. Here we report a richly-decorated young infant burial (AVH-1) from Arma Veirana (Liguria, northwestern Italy) that is directly dated to 10,211–9910 cal BP (95.4% probability), placing it within the early Holocene and therefore attributable to the early Mesolithic, a cultural period from which well-documented burials are exceedingly rare. Virtual dental histology, proteomics, and aDNA indicate that the infant was a 40–50 days old female. Associated artifacts indicate significant material and emotional investment in the child’s interment. The detailed biological profile of AVH-1 establishes the child as the earliest European near-neonate documented to be female. The Arma Veirana burial thus provides insight into sex/gender-based social status, funerary treatment, and the attribution of personhood to the youngest individuals among prehistoric hunter-gatherer groups and adds substantially to the scant data on mortuary practices from an important period in prehistory shortly following the end of the last Ice Age.


2021 ◽  
Vol 1 (1) ◽  
Author(s):  
Danielle Wurzel ◽  
Melanie R. Neeland ◽  
Jeremy Anderson ◽  
Yara-Natalie Abo ◽  
Lien Anh Ha Do ◽  
...  

Abstract Background Children with SARS-CoV-2 infection generally present with milder symptoms or are asymptomatic in comparison with adults, however severe disease occurs in a subset of children. To date, the immune correlates of severe COVID-19 in young children have been poorly characterised. Methods We report the kinetics of immune responses in relation to clinical and virological features in an infant with acute severe COVID-19 using high-dimensional flow cytometry and multiplex cytokine analysis. Results Systemic cellular and cytokine profiling show an initial increase in neutrophils and monocytes with depletion of lymphoid cell populations (particularly CD8 + T and NK cells) and elevated inflammatory cytokines. Expansion of memory CD4 + T (but not CD8 + T) cells occurred over time, with a predominant Th2 bias. Marked activation of T cell populations observed during the acute infection gradually resolved as the child recovered. Substantial in vitro activation of T-cell populations and robust cytokine production, in response to inactivated SARS-CoV-2 stimulation, was observed 3 months after infection indicating durable, long-lived cellular immune memory. Conclusions These findings provide important insights into the immune response of a young infant with severe COVID-19 and will help to inform future research into therapeutic targets for high-risk groups.


2021 ◽  
Vol 16 (2) ◽  
pp. 84-86
Author(s):  
Nurun Nahar Fatema Begum

Ventricular septal defect (VSD) is the commonest congenial heart lesion which may close spontaneously in significant number of cases. Muscular VSD has better chance of spontaneous closure. Some of the large muscular VSDs may cause severe complications like pulmonary hypertension and intractable heart failure. Closing VSD in young infant is challenging specially with devices as delivery systems are too large comparing to size of femoral vessels. Some centre prefers hybrid procedure of per ventricular device closure as surgical closure is high risk in young infants with complications. Here a case of large muscular VSD with severe pulmonary hypertension is reported in a ten month old girl which was closed successfully with a Konar- MFTM device and patient was discharged after 24 hours. JAFMC Bangladesh. Vol 16, No 2 (December) 2020: 84-86


2021 ◽  
Vol 9 ◽  
Author(s):  
Amal M. Yahya ◽  
Suleiman Al-Hammadi ◽  
Nidal O. AlHashaykeh ◽  
Salwa S. Alkaabi ◽  
Abdulghani S. Elomami ◽  
...  

We present here a male young infant with X-linked severe combined immunodeficiency (MIM#300400) due to the novel nonsense variant of IL2RG (interleukin 2 receptor, gamma; MIM#308380), NM_000206.2(IL2RG):c.820_823dup p.Ser275Asnfs*29. He developed aggressive reactive lymphohistiocytic proliferation after receiving the live-attenuated Bacillus Calmette-Guérin (BCG) vaccine at birth. This report advocates for modifying the current practice of early use of BCG. The natural history of his disease also suggests considering IL2RG variants as a potential cause of “X-linked recessive Mendelian susceptibility to mycobacterial disease” (MSMD). His reactive lymphohistiocytic proliferation and massive hepatosplenomegaly simulated hemophagocytic lymphohistiocytosis (HLH, likely triggered by the BCG disease). This entity was masked by the absence of fever and markedly elevated inflammatory biomarkers. Thus, his findings stimulate discussion on the need to modify the diagnostic criteria of HLH, in order to accommodate conditions, such IL2RG variants that block systemic inflammation.


Author(s):  
M. Belén Cubria ◽  
Luis Alberto Vega ◽  
William C. Shropshire ◽  
Misu A. Sanson ◽  
Brittany J. Shah ◽  
...  

Identified in the 1970s as the leading cause of invasive bacterial disease in neonates and young infants, Group B Streptococcus (GBS) is now also recognized as a significant cause of morbidity and mortality among adults with underlying medical conditions and the elderly. Concomitant with the increasing incidence of GBS invasive disease in adults is the rise of resistance among GBS isolates to second line antibiotics. Previous research shows that among serotype V GBS – one of the most common capsular types causing adult invasive disease – sequence type 1 (ST1) – accounts for an overwhelming majority of adult invasive disease isolates and frequently harbors macrolide resistance. In this study, using whole genome sequencing data from strains isolated in the USA and Canada over a 45-year period, we examined the association of antimicrobial resistance with the emergence of invasive serotype V ST1 GBS. Our findings show a strong temporal association between increased macrolide resistance and the emergence of serotype V ST1 GBS subpopulations that currently co-circulate to cause adult as well as young infant invasive disease. ST1 GBS subpopulations are defined, in part, by the presence of macrolide resistance genes in mobile genetic elements. Increased frequency of macrolide resistance-encoding mobile genetic elements among invasive GBS ST1 strains suggests the presence of such elements contributes to GBS virulence. Our work provides a foundation for the investigation of genetic features contributing to the increasing prevalence and pathogenesis of serotype V GBS in adult invasive disease.


QJM ◽  
2021 ◽  
Vol 114 (Supplement_1) ◽  
Author(s):  
Sherif Azab ◽  
Ashraf A El Midany ◽  
Ayman A Doghish ◽  
Abdelfatah E Salah El-din Abugabal

Abstract Background In the present era, primary correction is the preferred approach to the neonate or young infant with a cardiac anomaly who has two ventricles. However, when only one functional ventricle is present or pulmonary blood flow is reduced, an initial palliative systemic-to-pulmonary arterial shunt is mandatory. In this study we compare post-operative short term outcomes of sternotomy versus mini-sternotomy approaches in pediatric patients undergoing Modified Blalock Taussig Shunt. Patients and Methods A prospective randomized study was conducted on 90 patients who were schedueled for MBT shunt due to a group of cyanotic heart disease. They comprised 2 groups G1: sternotomy group (n = 45) and G2: ministernotomy group (n = 45). Results Mean age was 11± 3.39 months and mean weight was 6.75±1.96 kg in the sternotomy group, while for ministernotomy group the mean age was 10.55± 4.65 and mean weight was 7.00±2.03 kg. The change (%) between preoperative and postoperative oxygen saturation was 35.6% for sternotomy group and 43.8% for ministernotomy group. There were seven cases of mortality (15.6%) in sternotomy grouped compared to three cases of mortality (6.7%) in ministernotomy with P value of 0.314. Superficial wound infection occurred in one case (2.2%) in each group. Mean duration of ventilation was 52.53 ± 15.76 h for sternotomy group and 46.93±19.23 h for ministernotomy group with P value of 0.025, mean ICU stay was 7.42 ± 2.94 days for sternotomy group and 5.13± 2.37 days for ministernotomy with P value of < 0.001. Conclusion Upper ministernotomy is a safe alternative approach for MBT shunt in pediatric patients. It provides the advantages of less ventilation time, less post operative bleeding, and ICU stay.


2021 ◽  
pp. 1-34
Author(s):  
Elizabeth Molyneux ◽  
Bernadette O’Hare

Emergency triage assessment, Management of shock in children with severe malnutrition, Coma and convulsions, The sick young infant, Neonatal notes, Low birth weight and prematurity, Perinatal asphyxia/hypoxic ischaemic encephalopathy, Neonatal infection


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