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Iron and infection: the clinical evidence

Oppenheimer SJ

Acta Paediatr Scand Suppl, 1989;361:53-62.
PMID: 2485586

Iron deficiency is prevalent in childhood in the developed and developing countries. Programs of presumptive therapy, mass supplementation and food fortification have been introduced in many countries. The unresolved debate over the interaction of iron and infection in the clinical setting prompts re-evaluation of these practices. Situations of iron overload are associated with increased susceptibility to certain infections, although the exact mechanisms may vary with the main pathology. Iron treatment has been associated with acute exacerbations of infection, in particular malaria. In most instances parenteral iron was used. In the neonate parenteral iron is associated with serious E. coli sepsis. In one country, with endemic malaria, parenteral iron was associated with increased rates of malaria and increased morbidity due to respiratory disease in infants. In contrast in non-malarious countries studies of oral iron supplementation have if anything shown a reduction in infectious morbidity. Methodological problems in the latter reports indicate the need for further controlled prospective studies with accurate morbidity recording if informed recommendations are to be made.

Matched MeSH terms: Infant, Newborn
Fulltext Isolation of Janthinobacterium lividum from early onset neonatal sepsis patients in Malaysia

Shinkafi SH, Umar S, Neela VK, Noordin SM, Noordin SA, Hudu SA, et al.

Afr Health Sci, 2019 Sep;19(3):2378-2389.
PMID: 32127808 DOI: 10.4314/ahs.v19i3.11

Background: The term early onset neonatal septicaemia (EONS) refers to invasive bacterial infections that primarily involve the blood stream of neonates during the first 3 days of life. Although early onset neonatal septicaemia is relatively uncommon, it may be associated with case fatality rates of 15-30% and substantial morbidity in surviving infants.
Objectives: This study describes an unusual septicaemia cases with Janthinobacterium lividum in neonatal Intensive Care Units.
Methods: Bacterial causes of early onset neonatal sepsis in Kuala Lumpur Hospital Malaysia were investigated using broad range 16S rDNA PCR and sequencing. The bacterial DNA was isolated directly from blood without pre-incubation. All samples collected were equally cultured and incubated in automated BACTEC system.
Results: Two hundred and fifty two neonates were recruited in this study with mean (SD) gestational age of 35.9. Neonates with J. lividum infection lacked microbiological evidence of septicaemia as their blood culture yielded no bacterial growth. However, the PCR analysis of these samples yielded 1100bp corresponding to bacteria species.
Conclusion: This study demonstrates the value of PCR in detecting bacteria where special growth requirement is involved.

Matched MeSH terms: Infant, Newborn
Fulltext Type III congenital pulmonary airway malformation associated with oesophageal atresia and tracheoesophageal fistula. A case report and review of literature

Fijasri NH, Muhammad Asri NA, Mohd Shah MS, Abd Samad MR, Omar N

Afr J Paediatr Surg, 2023;20(3):245-248.
PMID: 37470566 DOI: 10.4103/ajps.AJPS_10_21

Congenital pulmonary airway malformation (CPAM) together with oesophageal atresia and tracheoesophageal fistula (TOF) is a very rare condition in neonates. We presented a case of an infant with Gross type C oesophageal atresia with TOF coexisting with Stocker Type III CPAM in our centre. It is interesting to know that TOF associated with type III CPAM has never been reported in the literature. The child was delivered through caesarean section, and because of respiratory distress post-delivery, endotracheal intubation was carried out immediately. CPAM was diagnosed by a suspicious finding from the initial chest X-ray and the diagnosis was confirmed through computed tomography scan of the chest. The patient was initially stabilised in a neonatal intensive care unit (NICU), and after the successful ligation of fistula and surgical repair of TOF, lung recruitment was started by high flow oscillatory ventilation. The patient recovered well without complications and able to maintain good saturation without oxygen support through the stay in the neonatal unit. Early recognition of this rare association is essential for immediate transfer to NICU, the intervention of any early life-threatening complications, and for vigilant monitoring in the postoperative period.

Matched MeSH terms: Infant, Newborn
Influence of Maternal Characteristics during Pregnancy on the Infant Early Life Immune Responses in a High HIV Burdened Setting in Harare, Zimbabwe

Nhidza AF, Naicker T, Stray-Pedersen B, Gumbo F, Chisango T, Sibanda E, et al.

Afr J Reprod Health, 2018 Sep;22(3):43-50.
PMID: 30381931 DOI: 10.29063/ajrh2018/v22i3.5

This study aimed at investigating the maternal characteristics that in turn influence the immunological status of infants in asymptomatic enteric pathogen carriers in mother baby pairs (MBPs) in a high HIV burdened population in Harare, Zimbabwe. BIOPLEX immunoassay was used to analyse serum samples from 39 MBPs for 27 cytokines and 6 immunoglobulins. The MBP were purposively selected based on HIV infection and Entamoeba histolytica carriage. Logistic regression was used to identify any link between maternal demographic and clinical data with infant cytokine and immunoglobulin levels. Maternal E. histolytica carriers were more likely to have infants with low levels of IL-12p70, FGF-basic, GM-CSF and TNF-α cytokines (OR: 0.14; 95% CI: 0.03-0.79) and high levels of IgA immunoglobulin (OR: 8.1; 95% CI: 1.45-45.06). HIV infected mothers were more likely to have infants with low levels of IgG2 (OR: 0.24; 95% CI: 0.06-1.00) and IgA (OR: 0.22; 95% CI: 0.05-0.90) immunoglobulins. Notably, it was highly likely to deliver infants with low IgG4 levels (OR: 0.24; 95% CI: 0.06-1.02) for maternal mean age above 30.38 years (Standard deviation 6.09) though not significant (p=0.05). Maternal E. histolytica asymptomatic carriage, and HIV-infection status result in low levels of pro-inflammatory cytokines IL-12p70, FGF-basic, GM-CSF and TNF-α and immunoglobulins IgG2, IgG4 and IgA on their infants.

Matched MeSH terms: Infant, Newborn/blood; Infant, Newborn/immunology*
Fulltext Analgesic efficacy of transversus abdominis plane block in neonates and early infants for colostomy and reversal of colostomy

Chen CK, Teo SC, Phui VE, Saman MA

Agri, 2015;27(4):210-4.
PMID: 26860495 DOI: 10.5505/agri.2015.66487

The application of ultrasound-guided transversus abdominis plane (TAP) block in paediatric population is gaining popularity among anaesthetists. We present a case series of ultrasound-guided TAP block in ten neonate and infants undergoing colostomy and reversal of stoma. Classical TAP as described by Hebbard was carried out and a maximum dosage of 1ml/kg of 0.25% levobupivacaine was injected. Pain score was assessed using Neonatal Infant Pain Scale for 24 hours. In all patients, the block was successful with minimal hemodynamic changes intraoperatively and no additional systemic analgesia was needed intraoperative and immediate postoperatively. Ultrasound-guided TAP block has an important role in providing safe and effective analgesia for colostomy creation and reversal of stoma surgeries in paediatric population.

Matched MeSH terms: Infant, Newborn
Cord IgE and ECP levels of Malay neonates

Yadav A, Naidu R

Allergol Immunopathol (Madr), 2013 Nov-Dec;41(6):364-8.
PMID: 23276420 DOI: 10.1016/j.aller.2012.08.007

Cord IgE and ECP levels are major atopic markers implicated in early childhood allergy development. Most epidemiological studies to date have not utilised current technology to establish baseline cord IgE levels, further aggravated by lack of data in this region. This study also attempts to identify a relationship between cord IgE and ECP levels as a mean to improve sensitivity for early prediction of atopy.

Matched MeSH terms: Infant, Newborn
Meeting the Best Practice for Hearing Aid Verification in Children: Challenges and Future Directions

Amri NA, Quar TK, Chong FY

Am J Audiol, 2019 Dec 16;28(4):877-894.
PMID: 31600460 DOI: 10.1044/2019_AJA-18-0156

Purpose This study examined the current pediatric amplification practice with an emphasis on hearing aid verification using probe microphone measurement (PMM), among audiologists in Klang Valley, Malaysia. Frequency of practice, access to PMM system, practiced protocols, barriers, and perception toward the benefits of PMM were identified through a survey. Method A questionnaire was distributed to and filled in by the audiologists who provided pediatric amplification service in Klang Valley, Malaysia. One hundred eight (N = 108) audiologists, composed of 90.3% women and 9.7% men (age range: 23-48 years), participated in the survey. Results PMM was not a clinical routine practiced by a majority of the audiologists, despite its recognition as the best clinical practice that should be incorporated into protocols for fitting hearing aids in children. Variations in practice existed warranting further steps to improve the current practice for children with hearing impairment. The lack of access to PMM equipment was 1 major barrier for the audiologists to practice real-ear verification. Practitioners' characteristics such as time constraints, low confidence, and knowledge levels were also identified as barriers that impede the uptake of the evidence-based practice. Conclusions The implementation of PMM in clinical practice remains a challenge to the audiology profession. A knowledge-transfer approach that takes into consideration the barriers and involves effective collaboration or engagement between the knowledge providers and potential stakeholders is required to promote the clinical application of evidence-based best practice.

Matched MeSH terms: Infant, Newborn
Environmental factors in the relationship between breastfeeding and infant mortality: the role of sanitation and water in Malaysia

Butz WP, Habicht JP, DaVanzo J

Am J Epidemiol, 1984 Apr;119(4):516-25.
PMID: 6711541

Mothers' recall data collected in Malaysia in 1976-1977 are analyzed to study correlates of mortality of 5471 infants. Respondent population is 1262 women living in 52 primary sampling units of Peninsular Malaysia. Lengths of unsupplemented and supplemented breastfeeding and presence of piped household water and toilet sanitation are related to infant mortality in regressions that also control other correlates. The analysis is disaggregated into three periods of infancy. Through six months of feeding, unsupplemented breastfeeding is more strongly associated with fewer infant deaths than is supplemented breastfeeding. Type of sanitation is generally more strongly associated with mortality than is type of water supply. The effects of breastfeeding and the environmental variables are shown to be strongly interactive and to change systematically during the course of infancy. Breastfeeding is more strongly associated with infant survival in homes without piped water or toilet sanitation. In homes with both modern facilities, supplemented breastfeeding has no significant effect, and unsupplemented breastfeeding is statistically significant only for mortality in days 8-28. Presence of modern water and sanitation systems appears unimportant for mortality of infants who are breastfed without supplementation for six months.

Matched MeSH terms: Infant, Newborn
Maternal literacy modifies the effect of toilets and piped water on infant survival in Malaysia

Esrey SA, Habicht JP

Am J Epidemiol, 1988 May;127(5):1079-87.
PMID: 3358408 DOI: 10.1093/oxfordjournals.aje.a114884

The effect of toilets, piped water, and maternal literacy on infant mortality was analyzed using data from the Malaysian Family Life Survey collected in 1976-1977. The effect of toilets and piped water on infant mortality was dependent on whether or not mothers were literate. The impact of having toilets was greater among the illiterate than among the literate, but the impact of piped water was greater among the literate than among the illiterate. The effect on the infant mortality rate for toilets decreased from 130.7 +/- 17.2 deaths in the absence of literate mothers to 76.2 +/- 25.9 deaths in the presence of literate mothers. The reduction in the mortality rate for maternal literacy dropped from 44.4 +/- 14.1 deaths without toilets to -10.1 +/- 23.9 deaths with toilets. Reductions in mortality rates for piped water increased from 16.7 +/- 12.7 deaths without literate mothers to 36.8 +/- 21.0 deaths with literate mothers. Similarly, reductions in the mortality rate for maternal literacy rose from 44.4 +/- 14.1 deaths in the absence of piped water to 64.5 +/- 19.5 deaths in the presence of piped water. The results from a logistic model provided inferences similar to those from ordinary least squares. The authors infer that literate mothers protect their infants especially in unsanitary environments lacking toilets, and that when piped water is introduced, they use it more effectively to practice better hygiene for their infants.

Matched MeSH terms: Infant, Newborn
Does breastfeeding really save lives, or are apparent benefits due to biases?

Habicht JP, DaVanzo J, Butz WP

Am J Epidemiol, 1986 Feb;123(2):279-90.
PMID: 3946377

Analysis of mothers' recall data collected in 1976-1977 by a probability survey in Peninsular Malaysia shows an association between breastfeeding up to six months of age and improved survival of infants throughout the first year of life. Inappropriate sample selection and inadequate control of confounding can introduce large biases in these analyses. The magnitude and direction of these biases are presented. Even when these biases are dealt with, unsupplemented breastfeeding appears more beneficial than supplemented breastfeeding. The younger the infant and the longer the breastfeeding, the greater the estimated benefits in terms of deaths averted. The use of powdered infant formula did not appear to offset the detrimental effects of early weaning and supplementation. The positive relationships found in these analyses between breastfeeding and survival are not due to death precluding or terminating breastfeeding. Nor are they likely to be due to a shift away from breastfeeding because of recent illness, which was also controlled in the analyses. Nor are they likely to be due to other factors that both increase mortality risk and shorten breastfeeding; when such factors are taken into account, the beneficial effects of breastfeeding become stronger and imply that, if there had been no breastfeeding in this sample, twice as many babies would have died after the first week of life.

Matched MeSH terms: Infant, Newborn
Association Between Preconception Care and Birth Outcomes

Jourabchi Z, Sharif S, Lye MS, Saeed A, Khor GL, Tajuddin SHS

Am J Health Promot, 2019 03;33(3):363-371.
PMID: 30011998 DOI: 10.1177/0890117118779808

PURPOSE: To evaluate the association between preconception care and the risk of adverse birth outcomes.
DESIGN: A quasi-experimental study comparing 2 groups: (1) integrated maternal health care (MHC) program (with preconception care) and (2) standard MHC program (without preconception care).
SETTING: Maternal health-care clinics in Alvand and Qazvin cities in Qazvin Province, Iran.
PARTICIPANTS: A total of 152 and 247 Iranian women aged 16 to 35 years were enrolled in the integrated MHC and standard MHC program, respectively.
MEASURES: The birth outcomes measured included low birth weight, preterm birth, maternal and neonatal complications, and mode of delivery (normal vaginal delivery and cesarean delivery).
ANALYSIS: Multiple logistic regression was performed to determine the impact of preconception care and risk of adverse birth outcomes with adjusted odds ratios (ORs) as effect sizes.
RESULTS: One hundred forty-seven women in integrated MHC and 218 women in standard MHC completed this study. Preconception care was associated with reduced risk of preterm birth (OR = 0.298; 95% confidence interval [CI] = 0.120-0.743; P = .009), low birth weight (OR = 0.406; 95% CI = 0.169-0.971; P = .043), maternal complication (OR = 0.399; 95% CI = 0.241-0.663; P < .001), and neonatal complications (OR = 0.460; 95% CI = 0.275-0.771; P = .003).
CONCLUSION: The findings of the present study revealed advantages of preconception care with reduced adverse birth outcomes.

Matched MeSH terms: Infant, Newborn
Gene mapping of Malaysian alpha thalassemias with alpha and zeta globin gene probes

Lie-Injo LE, Herrera AR, Lebo RV, Hassan K, Lopez CG

Am J Hematol, 1985 Mar;18(3):289-96.
PMID: 2983536

Restriction enzyme analysis of the alpha and zeta globin genes was carried out in four cases of Hb Bart's hydrops fetalis, in three patients with Hb H disease without Hb CoSp, in three patients with Hb H disease with Hb CoSp, in 47 individuals with alpha thalassemia trait, and in 47 normal individuals. All four cases of Hb Bart's hydrops fetalis resulted from deletions of alpha 1 and alpha 2 globin genes which did not extend to the psi zeta 1 and zeta 2 globin genes. The same type of deletion was observed in alpha thal1 carriers, but two newborns (one Malay and one of Chinese extraction) had a nondeletion type of alpha thal1 which was confirmed by quantitative alpha globin gene analysis. In addition, two other newborns diagnosed as alpha thal1 trait carriers (one Malay, one Chinese) were shown to have a deletion of both alpha globin genes by quantitative alpha globin gene analysis, but further testing with zeta globin gene probe failed to reveal an abnormal fragment length characteristic of an alpha globin gene deletion. We believe that this last condition is due to a large deletion which includes all alpha globin genes and all zeta globin genes on the same chromosome. On another front, Bgl II restriction analysis of all four Hb Bart's hydrops fetalis cases and the alpha thal1 trait carriers showed a 10.5-kb Bgl II restriction fragment, in the hydrops fetalis as a single band, while in the carriers this 10.5-kb fragment was accompanied by the usual normal 12.5-kb and 11.3-kb fragments. We report that this 10.5-kb fragment, previously thought to be specific for the Southeast Asian alpha thal1 gene deletion, is also common in normal individuals. Nevertheless, digestion with other enzymes can clearly differentiate the alpha thal1 and normal genotypes. We distinguish the findings in the alpha thalassemias from the extensive DNA polymorphism in the region of the alpha and zeta globin genes.

Matched MeSH terms: Infant, Newborn
Fulltext Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative Encephalopathy

Miyake N, Fukai R, Ohba C, Chihara T, Miura M, Shimizu H, et al.

Am J Hum Genet, 2016 Oct 06;99(4):950-961.
PMID: 27666374 DOI: 10.1016/j.ajhg.2016.08.005

We describe four families with affected siblings showing unique clinical features: early-onset (before 1 year of age) progressive diffuse brain atrophy with regression, postnatal microcephaly, postnatal growth retardation, muscle weakness/atrophy, and respiratory failure. By whole-exome sequencing, we identified biallelic TBCD mutations in eight affected individuals from the four families. TBCD encodes TBCD (tubulin folding co-factor D), which is one of five tubulin-specific chaperones playing a pivotal role in microtubule assembly in all cells. A total of seven mutations were found: five missense mutations, one nonsense, and one splice site mutation resulting in a frameshift. In vitro cell experiments revealed the impaired binding between most mutant TBCD proteins and ARL2, TBCE, and β-tubulin. The in vivo experiments using olfactory projection neurons in Drosophila melanogaster indicated that the TBCD mutations caused loss of function. The wide range of clinical severity seen in this neurodegenerative encephalopathy may result from the residual function of mutant TBCD proteins. Furthermore, the autopsied brain from one deceased individual showed characteristic neurodegenerative findings: cactus and somatic sprout formations in the residual Purkinje cells in the cerebellum, which are also seen in some diseases associated with mitochondrial impairment. Defects of microtubule formation caused by TBCD mutations may underlie the pathomechanism of this neurodegenerative encephalopathy.

Matched MeSH terms: Infant, Newborn
International Nosocomial Infection Control Consortium report, data summary of 50 countries for 2010-2015: Device-associated module

Rosenthal VD, Al-Abdely HM, El-Kholy AA, AlKhawaja SAA, Leblebicioglu H, Mehta Y, et al.

Am J Infect Control, 2016 12 01;44(12):1495-1504.
PMID: 27742143 DOI: 10.1016/j.ajic.2016.08.007

BACKGROUND: We report the results of International Nosocomial Infection Control Consortium (INICC) surveillance study from January 2010-December 2015 in 703 intensive care units (ICUs) in Latin America, Europe, Eastern Mediterranean, Southeast Asia, and Western Pacific.
METHODS: During the 6-year study period, using Centers for Disease Control and Prevention National Healthcare Safety Network (CDC-NHSN) definitions for device-associated health care-associated infection (DA-HAI), we collected prospective data from 861,284 patients hospitalized in INICC hospital ICUs for an aggregate of 3,506,562 days.
RESULTS: Although device use in INICC ICUs was similar to that reported from CDC-NHSN ICUs, DA-HAI rates were higher in the INICC ICUs: in the INICC medical-surgical ICUs, the pooled rate of central line-associated bloodstream infection, 4.1 per 1,000 central line-days, was nearly 5-fold higher than the 0.8 per 1,000 central line-days reported from comparable US ICUs, the overall rate of ventilator-associated pneumonia was also higher, 13.1 versus 0.9 per 1,000 ventilator-days, as was the rate of catheter-associated urinary tract infection, 5.07 versus 1.7 per 1,000 catheter-days. From blood cultures samples, frequencies of resistance of Pseudomonas isolates to amikacin (29.87% vs 10%) and to imipenem (44.3% vs 26.1%), and of Klebsiella pneumoniae isolates to ceftazidime (73.2% vs 28.8%) and to imipenem (43.27% vs 12.8%) were also higher in the INICC ICUs compared with CDC-NHSN ICUs.
CONCLUSIONS: Although DA-HAIs in INICC ICU patients continue to be higher than the rates reported in CDC-NSHN ICUs representing the developed world, we have observed a significant trend toward the reduction of DA-HAI rates in INICC ICUs as shown in each international report. It is INICC's main goal to continue facilitating education, training, and basic and cost-effective tools and resources, such as standardized forms and an online platform, to tackle this problem effectively and systematically.

Matched MeSH terms: Infant, Newborn
A multicenter point prevalence survey of healthcare-associated infections in Pakistan: Findings and implications

Saleem Z, Hassali MA, Godman B, Hashmi FK, Saleem F

Am J Infect Control, 2019 04;47(4):421-424.
PMID: 30471976 DOI: 10.1016/j.ajic.2018.09.025

BACKGROUND: Healthcare-associated infections (HAIs) are seen as a global public health threat, leading to increased mortality and morbidity as well as costs. However, little is currently known about the prevalence of HAIs in Pakistan. Consequently, this multicenter prevalence survey of HAIs was conducted to assess the prevalence of HAIs in Pakistan.
METHODS: We used the methodology employed by the European Centre for Disease Prevention and Control to assess the prevalence of HAIs in Punjab Province, Pakistan. Data were collected from 13 hospitals using a structured data collection tool.
RESULTS: Out of 1,553 hospitalized patients, 130 (8.4%) had symptoms of HAIs. The most common HAI was surgical site infection (40.0%), followed by bloodstream infection (21.5%), and lower respiratory tract infection (14.6%). The prevalence of HAI was higher in private sector hospitals (25.0%) and among neonates (23.8%) and patients admitted to intensive care units (33.3%). Patients without HAIs were admitted mainly to public sector hospitals and adult medical and surgical wards.
CONCLUSIONS: The study found a high rate of HAIs among hospitals in Pakistan, especially surgical site infections, bloodstream infections, and lower respiratory tract infections. This needs to be addressed to reduce morbidity, mortality, and costs in the future, and further research is planned.

Matched MeSH terms: Infant, Newborn
Fulltext Protection challenges of pregnant women against vertical transmission during COVID-19 epidemic: A narrative review

Hasnain M, Pasha MF, Ghani I, Budiarto R

Am J Infect Control, 2020 12;48(12):1516-1519.
PMID: 32621859 DOI: 10.1016/j.ajic.2020.06.206

This paper presents a narrative review study of 5 popular data repositories focusing on challenges of pregnant women protection during the COVID-19 pandemic. The study concludes that the likelihood of a vertical transmission of COVID-19 infection from pregnant women to neonates was not observed. Nevertheless, it remains a serious risk for them during their earlier stage of pregnancy, thus, special attention from health professionals has been recommended.

Matched MeSH terms: Infant, Newborn
Maternal uniparental heterodisomy of chromosome 6 in a boy with an isolated cleft lip and palate

Salahshourifar I, Halim AS, Sulaiman WA, Zilfalil BA

Am J Med Genet A, 2010 Jul;152A(7):1818-21.
PMID: 20583164 DOI: 10.1002/ajmg.a.33526

We describe a chromosome 6 uniparental disomy (UPD6) in a boy, discovered during a screening for the genetic cause of cleft lip and palate. In the medical literature, almost all documented cases of UPD6 are paternal in origin, and only four were maternal. We present here a report of complete maternal chromosome 6 uniparental heterodisomy. Haplotype analysis was performed using highly polymorphic short tandem repeat (STR) markers that span both arms of chromosome 6. Analysis of these markers revealed the presence of two maternal alleles but no paternal allele, indicating an instance of maternal uniparental heterodisomy. Chromosome analysis of peripheral blood lymphocytes confirmed a normal male karyotype. Advanced maternal age at the time of the infant's birth and heterodisomy of markers around the centromere favors a meiosis-I error. No specific phenotype has been reported for maternal UPD6. Therefore, the cleft lip and palate in the present case probably occurred due to other risk factors. This report provides further evidence that maternal UPD6 has no specific clinical consequences and adds to the collective knowledge of this rare chromosomal finding.

Matched MeSH terms: Infant, Newborn
Fulltext Cornelia de Lange syndrome in diverse populations

Dowsett L, Porras AR, Kruszka P, Davis B, Hu T, Honey E, et al.

Am J Med Genet A, 2019 02;179(2):150-158.
PMID: 30614194 DOI: 10.1002/ajmg.a.61033

Cornelia de Lange syndrome (CdLS) is a dominant multisystemic malformation syndrome due to mutations in five genes-NIPBL, SMC1A, HDAC8, SMC3, and RAD21. The characteristic facial dysmorphisms include microcephaly, arched eyebrows, synophrys, short nose with depressed bridge and anteverted nares, long philtrum, thin lips, micrognathia, and hypertrichosis. Most affected individuals have intellectual disability, growth deficiency, and upper limb anomalies. This study looked at individuals from diverse populations with both clinical and molecularly confirmed diagnoses of CdLS by facial analysis technology. Clinical data and images from 246 individuals with CdLS were obtained from 15 countries. This cohort included 49% female patients and ages ranged from infancy to 37 years. Individuals were grouped into ancestry categories of African descent, Asian, Latin American, Middle Eastern, and Caucasian. Across these populations, 14 features showed a statistically significant difference. The most common facial features found in all ancestry groups included synophrys, short nose with anteverted nares, and a long philtrum with thin vermillion of the upper lip. Using facial analysis technology we compared 246 individuals with CdLS to 246 gender/age matched controls and found that sensitivity was equal or greater than 95% for all groups. Specificity was equal or greater than 91%. In conclusion, we present consistent clinical findings from global populations with CdLS while demonstrating how facial analysis technology can be a tool to support accurate diagnoses in the clinical setting. This work, along with prior studies in this arena, will assist in earlier detection, recognition, and treatment of CdLS worldwide.

Matched MeSH terms: Infant, Newborn
Self-improving dystrophic epidermolysis bullosa: First report of clinical, molecular, and genetic characterization of five patients from Southeast Asia

Bishnoi P, Ng YZ, Wei H, Tan EC, Lunny DP, Wong XFCC, et al.

Am J Med Genet A, 2021 02;185(2):625-630.
PMID: 33258232 DOI: 10.1002/ajmg.a.61975

Self-improving dystrophic epidermolysis bullosa is a rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by significant improvement in skin fragility within the first few years of life. Genetic inheritance has previously been reported as autosomal dominant or recessive with both forms harboring mutations in COL7A1. To date, there have been no reports of this rare clinical entity from various Southeast Asian ethnicities. Here, we describe the clinical and molecular features of five patients from the Southeast Asia region who presented with predominantly acral-distributed blisters and erosions in the first few days of life. Blistering resolved over several months, without appearance of new blisters. By immunofluorescence, intraepidermal retention of Type VII collagen was observed in all patient skin biopsies when investigated with antibody staining. Genetic analysis of four patients revealed pathogenic variants in COL7A1 which have not been previously reported. The clinical diagnosis in these rare patients is confirmed with molecular histology and genetic characterization.

Matched MeSH terms: Infant, Newborn
Fulltext 22q11.2 deletion syndrome in diverse populations

Kruszka P, Addissie YA, McGinn DE, Porras AR, Biggs E, Share M, et al.

Am J Med Genet A, 2017 Apr;173(4):879-888.
PMID: 28328118 DOI: 10.1002/ajmg.a.38199

22q11.2 deletion syndrome (22q11.2 DS) is the most common microdeletion syndrome and is underdiagnosed in diverse populations. This syndrome has a variable phenotype and affects multiple systems, making early recognition imperative. In this study, individuals from diverse populations with 22q11.2 DS were evaluated clinically and by facial analysis technology. Clinical information from 106 individuals and images from 101 were collected from individuals with 22q11.2 DS from 11 countries; average age was 11.7 and 47% were male. Individuals were grouped into categories of African descent (African), Asian, and Latin American. We found that the phenotype of 22q11.2 DS varied across population groups. Only two findings, congenital heart disease and learning problems, were found in greater than 50% of participants. When comparing the clinical features of 22q11.2 DS in each population, the proportion of individuals within each clinical category was statistically different except for learning problems and ear anomalies (P

Matched MeSH terms: Infant, Newborn

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