Early visual intervention, visual function analysis, and grating visual acuity outcomes in children with congenital Zika syndrome

ABSTRACT Purpose: This study aimed to assess grating visual acuity and functional vision in children with congenital Zika syndrome. Methods: Initial and final grating visual acuity was measured using Teller acuity cards. Cerebral vision impairment standardized tests were used to assess functional vision. Patients were referred to the early visual intervention program for visually disabled children. Neuroimaging was performed. Results: In this study, 10 children were included with an age range of 1-37 months. Eight patients presented with macular atrophic scars. Neuroimaging revealed microcephaly and cerebral abnormalities in all patients. Low vision and cerebral vision impairment characteristics were observed in all children. The final grating visual acuity in this group varied from 3.00 to 0.81 logMAR. Conclusions: The grating visual acuity test revealed low vision in all children with congenital Zika syndrome. Functional vision evaluation revealed cerebral vision impairment characteristics in all patients, who were referred to the early visual intervention program. Visual acuity improved in six children.

Systematic review on molecular detection of congenital and neonatal infections caused by TORCH and SARS-CoV-2 in newborns' cerebrospinal fluid / Revisáo sistemática sobre deteção molecular de infecções congênitas e neonatais causadas por TORCH e SARS-CoV-2 no líquido cefalorraquidiano de recém-nascidos

ABSTRACT Objective: To verify the use and identify advantages of molecular methods for congenital infections diagnosis in cerebrospinal fluid of neonates. Data source: The review was registered in the International Prospective Register of Systematic Reviews (PROSPERO), under CRD42021274210. The literature search was performed in databases: PubMed, Virtual Health Library/ Latin American and Caribbean Center on Health Sciences Information (VHL/BIREME), Scopus, Web of Science, Excerpta Medica database (EMBASE), Cochrane, ProQuest, and EBSCOhost. The search was carried out from August to October 2021 and updated in December 2022, respecting the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. The selection sequence was: 1) Duplicate title removal; 2) Examination of titles and abstracts; 3) Full-text retrieval of potentially relevant reports; and 4) Evaluation of the full text according to eligibility criteria by two independent authors. Inclusion criteria considered randomized and non-randomized control trials, longitudinal, cross-sectional, and peer-reviewed studies in humans, published in English, Spanish, Italian, and Portuguese, with newborns up to 28 days old who had congenital neuroinfections by toxoplasmosis, rubella, cytomegalovirus, herpes simplex (TORCH), and others such as Treponema pallidum, Zika, parvovirus B-19, varicella zoster, Epstein-Barr, and SARS-CoV2, diagnosed by polymerase chain reaction (PCR). Two evaluators extracted the following information: author, year of publication, nationality, subjects, study type, methods, results, and conclusion. Data synthesis: The most studied pathogen was herpes simplex. Several articles reported only nonspecific initial symptoms, motivating the collection of cerebrospinal fluid and performing PCR for etiological investigation. Conclusions: Molecular methods are effective to detect pathogen genomes in cerebrospinal fluid, which can impact clinical evolution and neurological prognosis.

RESUMO Objetivo: Verificar a utilização e identificar as vantagens dos métodos moleculares para diagnóstico de infecções congênitas no líquido cefalorraquidiano de neonatos. Fontes de dados: A revisão foi registrada na base PROSPERO (International Prospective Register of Systematic Reviews) sob CRD42021274210. A busca bibliográfica foi realizada nas bases de dados PubMed, Biblioteca Virtual em Saúde/ Centro Latino-Americano e do Caribe de Informação em Ciências da Saúde (BVS/BIREME), Scopus, Web of Science, Excerpta Medica database (EMBASE), Cochrane, ProQuest, e EBSCOhost. A busca foi feita no período de agosto a outubro de 2021 e atualizada em dezembro de 2022, respeitando as orientações do Preferred Reporting Items for Systematic Reviews e Meta-Analyises (PRISMA). A sequência da seleção dos estudos foi: 1) Remoção de duplicatas; 2) Exame de títulos e resumos; 3) Recuperação dos textos completos potencialmente relevantes; e 4) Avaliação do texto completo conforme critérios de elegibilidade por dois autores independentes. O critério de inclusão considerou ensaios clínicos randomizados e não randomizados, estudos longitudinais, transversais, revisados por pares, estudos em humanos, publicados em inglês, espanhol, italiano e português, com recém-nascidos de até 28 dias que sofreram neuroinfecções congênitas pelos agentes toxoplasmose, rubéola, citomegalovírus, herpes simples (TORCH), e outros como Treponema pallidum, Zika, parvovírus B-19, varicela zoster, Epstein-Barr, e SARS-CoV-2, diagnosticadas por reação em cadeia de polimerase (PCR). Dois avaliadores extraíram as seguintes informações: autor, ano de publicação, nacionalidade, sujeitos, tipo de estudo, métodos, resultados e conclusão. Síntese dos dados: O patógeno mais estudado foi Herpes Simples. Muitos artigos relataram somente sintomas iniciais inespecíficos, motivando a coleta de líquido cefalorraquidiano e realização da PCR para investigação etiológica. Conclusões: Os métodos moleculares são eficazes para detectar o genoma do patógeno no líquido cefalorraquidiano, o que pode impactar na evolução clínica e no prognóstico neurológico.

Symptomatic vascular ring due to double aortic arch: A report of two cases.

Vascular ring anomalies, represented mainly by the double aortic arch (DAA), account for about 1% of congenital cardiovascular anomalies and are characterized by tracheoesophageal compression due to encircling vascular or ligamentous structures. These anomalies arise from the failure of the right fourth aortic arch to regress during embryonic development, leading to symptoms ranging from respiratory distress to dysphagia. Diagnostic imaging includes chest radiography, CT, MRI, and echocardiography, each with specific considerations, especially in pediatric patients. Management, often surgical, focuses on relieving compression symptoms and has a favorable prognosis. This case series emphasizes the manifestations of the double aortic arch, whether it be respiratory distress or dysphagia, and addresses both right and left dominant arches.

Ischemic vascular accident revealing hypoplasia of the internal carotid artery in a narrowed bony canal: A case report.

Hypoplasia of the internal carotid artery is a rare congenital abnormality that can present with an ischemic stroke or transient ischemic attacks. We present the case of a 17-year-old male who presented with right hemiparesis and dysarthria. The imaging revealed hypoplasia of the left internal carotid artery and narrowing of the left carotid duct. The patient was managed conservatively. This case highlights the importance of considering ICA hypoplasia as a cause of ischemic stroke in patients with a narrowed osseous canal. Early diagnosis and management can help prevent recurrent strokes.

Lens Thickness in Infants and Children with Cataracts.

Purpose: The purpose of this study was to determine the association between lens thickness and cataract in participants aged 0 to 5 years. Design: This was a prospective, multicenter, case-control study. Participants: We enrolled 118 participants (171 eyes) aged 0 to 5 years, mean age 14.6 ± 17.0 months, range 0 to 60 months. Methods: Lens thickness was measured on 342 ultrasound biomicroscopy (UBM) images. Main Outcome Measures: Lens thickness; feasibility of lens thickness measurement from UBM images. Results: The mean lens thickness among noncataracts was 3.60 ± 0.17 mm, compared with 3.16 ± 0.61 mm among cataracts (P < 0.0001). Lens thickness <3.5 mm was significantly associated with increased odds of cataract; adjusted odds ratio = 5.99 (95% confidence interval, 2.41-14.88; P < 0.0003) among participants age 0 to 7 months. Lens thickness was significantly associated with cataract laterality among participants age 0 to 7 months (P < 0.0001). Conclusions: Quantitative UBM can be used to evaluate lens thickness in infants and children with congenital cataracts. The lens in congenital cataract eyes was thinner than that of controls among infants. Abnormal lens thickness was significantly associated with cataract. Future longitudinal studies will examine the association between lens thickness and postcataract surgery outcomes. Financial Disclosures: Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.

Reducing the prime cardiopulmonary bypass volume during paediatric cardiac surgery.

INTRODUCTION: Despite technological advances, the use of homologous blood to prime the cardiopulmonary bypass (CPB) circuits of infants under 10 kg remains common. However, such rapid massive transfusion may increase post-CPB morbidity. METHOD: We retrospectively included consecutive patients weighing 2.3-10 kg who underwent cardiac surgery under CPB. Patients were divided into two groups based on their priming volumes: low priming volume (LPV) (below the median volume) or high priming volume (HPV) (the median volume or above). RESULTS: The study included 208 patients, of whom 104 had priming volumes below the median [37.9 (28.4-51.7) mL/kg] and 104 had at least the median volume. We recorded positive correlations between the priming volume, on the one hand, and the peak creatinine and CRP levels within 5 days postoperatively, the duration of intensive care unit (ICU) stay, and the mechanical ventilation time, on the other. A relationship was also observed between a higher median priming volume and the need for renal replacement therapy in the ICU and mediastinitis. CONCLUSION: Although the differences in priming volume between the twogroups were small, they significantly influenced the postoperative complications. Perfusionists should seek to limit the priming volume to reduce the post-CPB inflammatory response, the duration of ICU stay, and possibly the risk of mediastinitis.

Mothers' perspectives on the use and acceptability of 3d printed prosthesis by their children with congenital upper limb difference in India: a qualitative study.

PURPOSE: Children with congenital upper limb difference (CULD) in India have limited access to treatment with conventional prostheses. 3D printed prosthetic devices (3DPP) can function as transitional prostheses for growing children with congenital transverse deficiency. They are low-cost and the designs are easily customized. However, functional outcomes, access, and acceptability are still unexplored in many clinical settings. This qualitative study sought perspectives from Indian mothers of children with CULD using 3DPP for the first time. The objective was to enhance understanding of 3DPP acceptability and to explore how their children utilized these devices. METHOD: Semi-structured interviews were conducted with seven mothers of children aged 3 to 11 years with varying levels of CULD who had been fitted with a 3DPP for at least 1 month prior. The interviews aimed to gather insights into the children's daily experiences with the devices and the mothers' perceptions of 3DPP. Thematic analysis was carried out using an inductive approach. RESULTS: Four major themes were identified through thematic analysis. They were: 1. Design and functionality of 3DPP, 2. Adaptation patterns, 3. Social attitudes and perceptions, and 4. Access to the Center for congenital hand differences: location and its services. CONCLUSION: Our study explores the early-stage use and acceptance of 3DPP in India. Mothers reported several reasons for prosthesis abandonment including functional limitations, pain, and unmet expectations. The acceptability of 3DPP was moderate among close family, but social stigmatization was still a barrier to continued use. Addressing these issues and offering tailored solutions could be important to achieve successful 3DPP adaptation.

3D printed prostheses (3DPP) offer affordability and customizability. The current study explores their use and acceptability in a low-income setting in India.Specialized and individualized 3DPP design is essential. Given the identified limitations in functionality, prioritizing the patient's needs for specific applications in daily activities or sports with improved grip is critical for optimal performance.Enhanced communication and collaboration among all stakeholders (parents, child, surgeon, and engineers) are necessary to prevent disappointment and improve overall usage rates of 3DPP.Implementing 3DPP in rehabilitation should account for local socioeconomic barriers and develop strategies to overcome these obstacles to achieve effective and functional outcomes.

Congenital Arteriovenous Fistula in a Nine-Year-Old Child: A Case Report.

Congenital external carotid-jugular fistula is a rare condition caused by altered embryologic development of the vasculature. It is usually treated with surgery or endovascular embolization; controversy exists on the best therapeutic approach and the specific endovascular technique. We report a case of a complex congenital fistula between the external carotid and jugular veins treated with a combined trans-arterial dual microcatheter coiling technique followed by n-BCA (n-butyl cyanoacrylate) glue embolization. After performing a balloon occlusion test to localize the exact fistulous point, dual microcatheter coiling allowed flow reduction and proper packing without balloon assistance. Due to the superficial location of the fistula, the use of n-BCA glue embolization glue guaranteed complete occlusion, avoiding the skin discoloration that Onyx, the standard embolic agent used in fistulas, might cause. This combined endovascular technique provides a safe and simple strategy to optimize efficacy and aesthetic outcomes in a young child with a congenital carotid-jugular fistula.

Comparing the Diagnostic Efficacy of 3D Ultrasound and MRI in the Classification of Müllerian Anomalies.

BACKGROUND: Müllerian anomalies significantly impact female reproductive health. This study aims to compare the diagnostic efficacy of three-dimensional ultrasound (3D-US) and magnetic resonance imaging (MRI) in detecting and classifying these anomalies. METHODS: A retrospective analysis of 150 patients with Müllerian anomalies was conducted at Saveetha Medical College and Hospital from March 2018 to March 2024. MRI and 3D-US examinations were performed and analyzed independently by two radiologists. Anomalies were classified according to European Society of Human Reproduction and Embryology (ESHRE)/European Society for Gynaecological Endoscopy (ESGE) and American Society for Reproductive Medicine (ASRM) guidelines. RESULTS: The septate uterus was the most prevalent anomaly, observed in 53 patients (35.3%). MRI demonstrated superior diagnostic accuracy (AUC 0.92) compared to 3D-US (AUC 0.88). Significant associations were found between presenting symptoms and specific anomaly types (p < 0.05). Inter-rater reliability between the two radiologists, with respect to classification of anomalies, was high (Cohen's kappa 0.85). DISCUSSION: MRI's superior soft-tissue contrast and multiplanar capabilities make it the gold standard for evaluating complex uterine malformations. 3D-US offers valuable real-time imaging and is particularly effective in assessing septum characteristics. The combined use of MRI and 3D-US enhances diagnostic precision and facilitates tailored management strategies. CONCLUSION: Integrating MRI and 3D-US in clinical practice improves diagnostic accuracy and treatment planning for Müllerian anomalies, ultimately enhancing patient outcomes.

Congenital ureterovaginal fistula and a duplicated left ectopic ureter: A rare case in Tanzania.

This case report presents the clinical journey of a 28-year-old nulliparous woman from Dar es Salaam, Tanzania, who sought medical attention due to lifelong urinary leakage since birth, profoundly impacting her emotional well-being and sexual encounters. Clinical examination revealed urinary leakage from the vagina, with unremarkable abdominal and genital findings. Laboratory investigations were normal. Computed tomography intravenous urography revealed a left duplex collecting system with significant hydroureteronephrosis in the left upper moiety, suggestive of an ectopic ureter. Intraoperative exploration confirmed a duplicated left ureter, with the upper moiety implanted into the vaginal canal. Surgical re-implantation of both left ureters into the bladder was successfully performed, correcting the anatomical anomaly. Postoperative follow-up demonstrated marked improvement in urinary symptoms, restoring the patient's confidence and alleviating emotional distress. This case underscores the complexity and rarity of congenital urinary tract anomalies, particularly in resource-constrained settings, and highlights the importance of a stepwise diagnostic and management approach.

Endovascular treatment of aortic coarctation using covered balloon-expandable stents-a systematic review and meta-analysis.

Objectives: Balloon dilation followed by balloon-expandable stent implantation is an effective treatment for improving hemodynamic status in patients with coarctation of the aorta (CoA). However, limited evidence exists regarding the safety and efficacy of covered balloon-expandable stents (CBSs) in a large cohort. In this meta-analysis, we aimed to evaluate the overall success rates, hemodynamic and anatomical benefits, complications, and mid-term results of CBSs in treating CoA. Methods: The PubMed, Embase, and Cochrane Library databases were systemically searched for studies reporting outcomes of CBSs in treating CoA. Single-group rate meta-analyses were performed to calculate estimated pooled procedural success rates, the incidence of complications, and re-coarctation rates. A meta-analysis using standardized mean differences was conducted to compare pre- and postoperative trans-coarctation pressure gradients (PGs), coarctation diameter, and overall changes in systolic blood pressure (SBP). Subgroup analyses were performed to identify potential sources of heterogeneity. Results: The final analysis included 12 studies with a total of 411 patients. The estimated pooled procedural success rate was 100% [95% confidence interval (CI): 98%-100%, I2 = 0, P = 0.78]. Significant decreases in trans-coarctation PGs and SBP were observed. The pooled incidences of stent-related, aortic, and access site complications were 2% (95% CI: 0%-5%, I 2 = 30.4%, P = 0.15), 2% (95% CI: 0%-4%, I 2 = 0%, P = 0.76), and 3% (95% CI: 1%-7%, I 2 = 52.9%, P = 0.02), respectively. Subgroup analyses showed that implantation of BeGraft stents was related to a significantly higher incidence of access site complications. Conclusion: Covered balloon-expandable stent implantation in treating CoA is safe and effective with high procedural success rates, an acceptable incidence of complications, and a low incidence of re-coarctation. Systematic Review Registration: https://www.crd.york.ac.uk/PROSPERO/, PROSPERO (CRD42023430356).

Clinicodemographic profile and outcomes of congenital diaphragmatic hernia with sac: experience of a paediatric referral centre.

Introduction: Congenital diaphragmatic hernia, in which viscera herniate into the thoracic cavity, is one of the common causes of onset of respiratory distress in neonates and children. Developmentally they may have a sac in rare cases. Aim: To analyse the clinical profile and the outcome of congenital diaphragmatic hernia with a sac in neonates and children in a paediatric referral centre. Material and methods: All surgically repaired patients with a congenital diaphragmatic hernia with sac, admitted and treated over a period of sixteen years from January 2005 to December 2021 in a tertiary care referral neonatal and paediatric centre, were included in this study. Forty-three children including neonates were analysed by their clinical characteristics, risk factors and mode of surgical interventions. Congenital diaphragmatic eventration and diaphragmatic hernial defects were excluded from this study. Results: Forty-three study subjects were grouped into two groups for clinical and statistical analysis, based on their pre-operative and intra-operative findings as well their final diagnosis. Cases of left-sided congenial diaphragmatic hernia with sac (LCDHS) were included in group I (n = 30) and cases of right-sided congenital diaphragmatic hernia with sac (RCDHS) were included in group II (n = 13). Each group was further subclassified into A, B, C according to the age of presentation and side of the lesion in order to determine the prognosis in each subgroup. Level of evidence IV. Conclusions: Mere awareness and clinical suspicion of such a rare embryological defect - a congenital diaphragmatic hernia with sac - from the attending clinicians can improve the prognosis of affected babies, avoiding morbid consequences if referred early to a tertiary care paediatric and neonatal centre.

Surgical Treatment of Atrial Septal Defects.

Atrial septal defects (ASDs) are among the most prevalent congenital cardiac malformations. Closure of the defect and repair of associated cardiac malformations are typically indicated if an ASD is hemodynamically significant or symptomatic. This narrative review aims to summarize key aspects of surgical ASD closures. A non-systematic literature review was conducted to cover surgically relevant aspects of (developmental) anatomy, morphology, and treatment. ASDs result from diverse developmental alterations, leading to subtype-specific associated cardiac malformations, meaning surgical therapy varies accordingly. Presently, surgical repair yields excellent outcomes for all ASD subtypes, with minimally invasive approaches, especially in adults, increasingly employed for ASD closure. Surgical ASD repair is safe with excellent results. However, familiarity with ASD subtypes and typically associated lesions is crucial for optimal patient management.

Mapping the diagnostic odyssey of congenital disorders of glycosylation (CDG): insights from the community.

BACKGROUND: Congenital disorders of glycosylation (CDG) are a group of rare metabolic diseases with heterogeneous presentations, leading to substantial diagnostic challenges, which are poorly understood. Therefore, this study aims to elucidate this diagnostic journey by examining families' and professionals' experiences. RESULTS AND DISCUSSION: A questionnaire was designed for CDG families and professionals, garnering 160 and 35 responses, respectively. Analysis revealed the lack of seizures as a distinctive feature between PMM2-CDG (11.2%) with Other CDG (57.7%) at symptom onset. Hypotonia and developmental disability were prevalent symptoms across all studied CDG. Feeding problems were identified as an early onset symptom in PMM2-CDG (Cramer's V (V) = 0.30, False Discovery Rate (FDR) = 3.8 × 10- 9), and hypotonia in all studied CDG (V = 0.34, FDR = 7.0 × 10- 3). The average time to diagnosis has decreased in recent years (now ~ 3.9 years), due to advancements namely the increased use of whole genome and exome sequencing. However, misdiagnoses remain prevalent (PMM2-CDG - 44.9%, non-PMM2-CDG - 64.8%). To address these challenges, we propose adapting medical training to increase awareness of CDG and other rare diseases, ongoing education for physicians, the development of educational resources for relevant medical units, and empowerment of families through patient organizations and support networks. CONCLUSION: This study emphasizes the crucial role of community-centered research, and the insights families can offer to enhance CDG management. By pinpointing existing gaps and needs, our findings can inform targeted interventions and support systems to improve the lives of those impacted by CDG.

The cumulative impact of clinical risk on brain networks and associations with executive function impairments in adolescents with congenital heart disease.

Patients with congenital heart disease (CHD) demonstrate altered structural brain network connectivity. However, there is large variability between reported results and little information is available to identify those patients at highest risk for brain alterations. Thus, we aimed to investigate if network connectivity measures were associated with the individual patient's cumulative load of clinical risk factors and with family-environmental factors in a cohort of adolescents with CHD. Further, we investigated associations with executive function impairments. In 53 adolescents with CHD who underwent open-heart surgery during infancy, and 75 healthy controls, diffusion magnetic resonance imaging and neuropsychological assessment was conducted at a mean age of 13.2 ± 1.3 years. Structural connectomes were constructed using constrained spherical deconvolution tractography. Graph theory and network-based statistics were applied to investigate network connectivity measures. A cumulative clinical risk (CCR) score was built by summing up binary risk factors (neonatal, cardiac, neurologic) based on clinically relevant thresholds. The role of family-environmental factors (parental education, parental mental health, and family function) was investigated. An age-adjusted executive function summary score was built from nine neuropsychological tests. While network integration and segregation were preserved in adolescents with CHD, they showed lower edge strength in a dense subnetwork. A higher CCR score was associated with lower network segregation, edge strength, and executive function performance. Edge strength was particularly reduced in a subnetwork including inter-frontal and fronto-parietal-thalamic connections. There was no association with family-environmental factors. Poorer executive functioning was associated with lower network integration and segregation. We demonstrated evidence for alterations of network connectivity strength in adolescents with CHD - particularly in those patients who face a cumulative exposure to multiple clinical risk factors over time. Quantifying the cumulative load of risk early in life may help to better predict trajectories of brain development in order to identify and support the most vulnerable patients as early as possible.

A rare case of symptomatic congenital lobar emphysema in an adolescent female who underwent expectant management of a congenital pulmonary malformation: a case report.

Background: Asymptomatic congenital pulmonary airway malformations (CPAMs) and congenital lobar emphysema (CLE) may safely be observed, though little is known about how many patients later require surgery. The management of these lesions remains controversial, as limited research exists on which patients later require surgery. Notably, there are few reported cases where patients become symptomatic and require definitive treatment beyond childhood. Case Description: We present the rare case of a 17-year-old female who developed dyspnea on exertion associated with pre-syncope, following diagnosis of a CPAM at birth. She had undergone surveillance until 2 years of age. The decision to proceed with a left upper lobectomy via thoracotomy was made, for treatment of her symptoms. During the surgery, one lung ventilation suggested that oxygenation had likely limited to the patient's healthy lung, prior to intervention. The surgery was uncomplicated, and her recovery was uneventful. Pathology revealed CLE. Conclusions: This case highlights that congenital lung malformations should remain in the differential diagnosis of patients presenting in adolescence or adulthood with new onset respiratory symptoms. For patients with a history of untreated congenital lung pathology, it is important to consider the presence of adhesions and loss of domain in perioperative planning. This case also highlights the ongoing need for research on the prognostication of these lesions to better inform surveillance.

Surgical Treatment of Central Type Mirror Foot Associated with Eight Toes: A Case Report.

Introduction: Mirror foot is an extremely rare type of foot malformation and is characterized by the duplication of toes and metatarsals around a centrally located hallux toe. It can be part of a generalized congenital dysplasia or an isolated one. The central type is the less frequent form of the mirror foot. Case Report: We present an isolated type of central mirror foot with eight toes, seven metatarsals, and four cuneiforms. The isolated toe was medially located. The child presented no other deformities. Surgical management was performed at the age of 1 year, consisting of central-ray removal, using a dorsal and plantar incision. The approximation of the remaining metatarsals was reinforced using a suture that enwrapped the bones. We achieved an appropriate reduction in the width of the foot. A year after the procedure, the foot had a normal shape. Conclusion: Our manuscript presents the case of a central mirror foot that was treated surgically with adequate restoration of the proximity of the remaining rays.

Congenital Pseudoarthrosis of the Femur Managed with Masquelet Technique.

Introduction: Congenital pseudoarthrosis is a rare disorder, and mostly occurs in the radius, ulna, tibia, and fibula, but is not reported in the femur. Congenital cases that were reported in the literature, most were associated with neurofibromatosis, cleidocranial dysostosis, congenital constriction band syndrome and fibrous dysplasia and the acquired cases followed fractures of bones or tuberculosis. Since the life span of the patient is affected rarely, clinical examination of these patients and serial radiographs can give us plenty of information about the limb abnormality, its clinical course, and the nature of the underlying disturbance of growth. Case Report: A 3 year female child presents to the outpatient department of a tertiary care hospital with complaints of pain, swelling and deformity thigh region right side for 5 months. On examination, Swelling was present [2x2 cm] at the junction of the mid and distal thigh, smooth surface, ill defined edges, soft and non tender. There was abnormal mobility which was noted at the right thigh at the junction of the middle and distal 1/3 right femurMRI reported circumferential periosteal reaction with cortical surface irregularity of the right femoral shaft was also noted. The findings were reported to be concerning for chronic osteomyelitis with non-united fracture & cortical resorption/chronic bone loss. Histopathological sections showed multiple bits of viable bony trabeculae with surrounding fibro-collagenous tissue displaying significant proliferation of fibroblasts, slit-like blood vessels, arterioles and moderate mixed inflammatory infiltrate of plasma cells, few neutrophils, lymphocytes, histiocytes and few multinucleated histiocytes.She was managed with resection of pseudoarthrosis and masquelet procedure stage 1 and later masquelet stage 2 (cement spacer removal, ipsilateral ileac crest bone grafting with fixation with 7-hole distal fibular anatomical plate and bone graft substitute placement [ChronOs]). Conclusion: Idiopathic or primary congenital pseudoarthrosis can involve the femur as well as other long bones. It may or may not be associated with hip dysplasia and the outcome may not be as bad as previously reported in the pseudoarthrosis of other long bones.

A Longitudinal Observation of Antenatal Milk Expression in Mothers of Infants with Congenital Anomalies.

Background: For mothers of infants with congenital anomalies, antenatal milk expression (AME), known as hand expression during late pregnancy, allows mothers to contribute to their newborn's care through colostrum collection. However, research is limited by self-report of AME adherence and colostrum volume. Objective: This study examined the ability of participants to adhere to a recommended protocol on AME for any removal and measurement of colostrum during late pregnancy. Materials and Methods: A prospective, longitudinal, observational design was used. Our recommended protocol involved hand expression of 5 minutes per breast for a total of 10 minutes for each AME session twice per 24 hours for any colostrum from 37 0/7 weeks gestation until birth. Women received AME education, completed milk logs, and attempted AME. The study team verified all colostrum volumes. Results: Nineteen women (10 nulliparous) participated, with 13 (68%) carrying infants with major organ system defects and 6 (32%) carrying infants with congenital heart defects. Most participants (52.6%) completed more than half but fewer than all AME sessions. Seven participants (36.8%) fully adhered, completing two AME sessions daily until hospital admission. Eighteen participants (94.7%) could remove milk (80-100% of the time). The 24-hour colostrum volume (median 0.35 mL, interquartile range [IQR] 0.065-0.845) and the total colostrum volume (median 3.99 mL, IQR 1.35-6.82) from AME varied. Conclusions: Among a small group of women of infants with congenital anomalies, adherence to a recommended protocol is feasible but varied by AME session frequency. Most women could collect colostrum for future infant feeding.

Sanguineous cardiopulmonary bypass prime accelerates the inflammatory response during pediatric cardiac surgery.

BACKGROUND: The inflammatory response to cardiopulmonary bypass (CPB) in pediatric patients remains an unresolved challenge. Sanguineous CPB prime, composed of allogenic blood products, is one potentially important stimulus. This study aims to identify specific inflammatory mediators active in sanguineous CPB prime and their impact on the inflammatory response at CPB initiation. METHODS: In a post-hoc analysis of a prospective observational cohort study (NCT05154864), where pediatric patients undergoing cardiac surgery with CPB were enrolled after informed consent, patients were grouped by CPB prime type (sanguineous vs crystalloid). Arterial samples were collected post-sternotomy as a baseline and again at CPB initiation from all patients. In the sanguineous group, CPB prime samples were also collected after buffered ultrafiltration but before CPB initiation. Luminex® measured concentrations of 24 inflammatory mediators for comparison between groups. Statistical analyses were by Mann-Whitney test and Wilcoxon signed-rank test. Data are presented as median [IQR]. RESULTS: Forty consecutive pediatric patients participated. The sanguineous group (n = 26) was younger (4.0 [0.2 - 6.0] vs 48.5 [39.0 - 69.5] months; p = 2.6 × 10-7) and smaller (4.9 [34 - 6.6] vs 17.2 [14.9 - 19.6] kg; p = 2.6 × 10-7) than the crystalloid group (n = 14). Despite this, baseline concentrations of 20 complement and cytokine concentrations were comparable between groups (p > 0.05) while four showed differences between groups (p < 0.05). The sanguineous prime contained supraphysiologic concentrations of complement mediators: C2, C3, C3a, C3b, and C5a. Correspondingly, upon CPB initiation, patients receiving sanguineous prime exhibited a significantly larger burden of C2, C3, C3b, C5, and C5a (p < 0.001) relative to the crystalloid group. Cytokine and chemokine mediators were present at trace levels in the sanguineous prime. CONCLUSIONS: Sanguineous prime contains activated complement that accelerates the inflammatory response at CPB initiation in neonates and infants. Immunomodulatory interventions targeting complement during CPB prime preparation could offer substantial benefits for these vulnerable patients.