[Recurrent hemolysis and iron overload of unclear origin]. / Rezidivierende Hämolysen und Eisenüberladung unklarer Genese.

The case of a 33-year-old male with recurrent icterus and hemolysis since childhood that was long mistaken for Gilbert disease is presented. Subsequently, the patient also developed splenomegaly and gallstones together with iron overload. Genetic testing revealed the diagnosis of hereditary xerocytosis, which is an erythrocyte membrane disorder causing recurrent hemolysis. Xerocytosis is often challenging to diagnose and the frequency of the condition might be underestimated as there are often no typical findings in the microscopic differential blood count, and Eosin-5-maleimide dye (EMA) test, which is used to diagnose other erythrocyte membrane disorders, is normal. In cases of splenomegaly, iron overload and recurrent hemolysis, or in the case of a clinical diagnosis of Gilbert disease together with one of the above-mentioned symptoms, further investigations and possibly also genetic testing should be considered.

Intermittent fasting and the liver: Focus on the Ramadan model.

Intermittent fasting (IF) is an intervention that involves not only dietary modifications but also behavioral changes with the main core being a period of fasting alternating with a period of controlled feeding. The duration of fasting differs from one regimen to another. Ramadan fasting (RF) is a religious fasting for Muslims, it lasts for only one month every one lunar year. In this model of fasting, observers abstain from food and water for a period that extends from dawn to sunset. The period of daily fasting is variable (12-18 hours) as Ramadan rotates in all seasons of the year. Consequently, longer duration of daily fasting is observed during the summer. In fact, RF is a peculiar type of IF. It is a dry IF as no water is allowed during the fasting hours, also there are no calorie restrictions during feeding hours, and the mealtime is exclusively nighttime. These three variables of the RF model are believed to have a variable impact on different liver diseases. RF was evaluated by different observational and interventional studies among patients with non-alcoholic fatty liver disease and it was associated with improvements in anthropometric measures, metabolic profile, and liver biochemistry regardless of the calorie restriction among lean and obese patients. The situation is rather different for patients with liver cirrhosis. RF was associated with adverse events among patients with liver cirrhosis irrespective of the underlying etiology of cirrhosis. Cirrhotic patients developed new ascites, ascites were increased, had higher serum bilirubin levels after Ramadan, and frequently developed hepatic encephalopathy and acute upper gastrointestinal bleeding. These complications were higher among patients with Child class B and C cirrhosis, and some fatalities occurred due to fasting. Liver transplant recipients as a special group of patients, are vulnerable to dehydration, fluctuation in blood immunosuppressive levels, likelihood of deterioration and hence observing RF without special precautions could represent a real danger for them. Patients with Gilbert syndrome can safely observe RF despite the minor elevations in serum bilirubin reported during the early days of fasting.

Sub-THz High Spin Precession Frequency in van der Waals Ferromagnet Fe3GaTe2.

The 2D magnet Fe3GaTe2 has received considerable attention for its high Curie temperature (TC), robust intrinsic ferromagnetism, and significant perpendicular magnetic anisotropy (PMA). In this study, the dynamic magnetic properties of Fe3GaTe2 are systematically investigated using an all-optical pump-probe technique. We find that the spin precession frequency (f) is as high as 351.2 GHz at T = 10 K under a field of H = 70 kOe. However, it decreases to 242.8 GHz at 300 K, mainly due to the reduced effective PMA field (Hkeff). The Gilbert damping factor (α) is modest, which increases from 0.039 (10 K) to 0.075 (300 K) owing to the enhanced scattering rate. Interestingly, when Fe3GaTe2 is coupled with 2 nm of Co, the Hkeff, f, and α just decrease slightly, highlighting the dominant influence of Fe3GaTe2. These findings substantially deepen our understanding of Fe3GaTe2, promoting the development of spintronic devices based on advanced 2D magnetic materials.

Room temperature spin injection study across semi-crystalline PVDF-HFP thin films in PVDF-HFP/NiFe bilayers and Ag/(NiFe or Co)/PVDF-HFP/NiFe spin valves.

Spin injection across 160 nm thick semi-crystalline Poly(vinylidene fluoride-co-hexafluoropropylene) (PVDF-HFP) is methodically investigated at room temperature in PVDF-HFP/NiFe bilayers and Ag/(NiFe or Co)/PVDF-HFP/NiFe vertical organic spin valves (OSVs) using both the co-planar waveguide ferromagnetic resonance (CPW-FMR: 7-35 GHz) and magnetoresistance (MR) techniques. The structural and microstructural characteristics of PVDF-HFP reveal the formation of mixed non-ferroelectric alpha and ferroelectric beta phases. The spin injection due to the transfer of angular momentum in PVDF-HFP/NiFe is quantified by measuring the spin-mixing conductance (g↑↓) and the enhancement in Gilbert damping (α) parameters from CPW-FMR data. A significant increase inαof 26% andg↑↓of (2.72 ± 0.45) × 1019m-2highlights the efficient spin injection into the PVDF-HFP spacer layer. Further, the MR in OSV structures reveals a room temperature spin injection with a maximum MR of 0.278 ± 0.006% for Ag/Co/PVDF-HFP/NiFe and 0.349 ± 0.039% for the Ag/NiFe/PVDF-HFP/NiFe devices. Furthermore, the spin injection processes are discussed w.r.t to bias voltages, interfaces and microwave frequencies.

Dynamic thiol/disulfide homeostasis and myeloperoxidase levels in Gilbert's syndrome with mild hyperbilirubinemia.

Aim: This study aimed to compare dynamic thiol/disulfide homeostasis and myeloperoxidase (MPO) levels in patients with Gilbert's syndrome (GS) and healthy controls. Background: Thiol/disulfide homeostasis and MPO levels are both associated with increased progression of atherosclerosis. Methods: The study included a total of 130 voluntary participants comprising 65 patients with GS and 65 healthy controls. These patients were selected randomly and dynamic thiol/disulfide homeostasis, MPO, complete blood count results, and biochemistry and lipid parameters were evaluated. Patients with known chronic diseases, medication usage, and acute infections were excluded from the study. Serum total thiol and native thiol levels were measured using the fully automated colorimetric method, while serum MPO levels were measured using the sandwich ELISA method. Results: We found that patients with GS had significantly higher total thiol (352.3±38.6 vs. 317.9±47.9, p<0.001) and native thiol (386.6±42.6 vs. 348.0±51.1, p<0.001) and significantly lower disulfide (15.7±4.0 vs. 17.3±4.0, p=0.022) and MPO (130.7 vs. 166.3, p=0.006). In patients with bilirubin of <1 mg/dL, total thiol and native thiol levels were lower and disulfide, disulfide/native thiol (DNT) and disulfide/total thiol (DTT) ratios, and MPO levels were higher. Patients with bilirubin of <1 mg/dL also had higher total cholesterol. Conclusion: In these patients with GS, the thiol/disulfide balance shifted towards thiols and proinflammatory MPO levels were lower. When bilirubin was <1 mg/dL, disulfide, DNT and DTT ratios, and MPO were higher. Bilirubin levels affected all parameters of thiol/disulfide homeostasis and MPO levels independently of other risk factors. In light of our results, we suggest that mild hyperbilirubinemia in cases of GS has an anti-inflammatory and antioxidant effect and may be protective against atherosclerosis.

A Case of Adult Hereditary Spherocytosis Concomitant with Gilbert Syndrome Caused by Mutations in SPTB and UGT1A1.

Hereditary spherocytosis (HS) is the most common hereditary hemolytic disease with defects in red blood cells (RBC) membrane proteins caused by mutations in membrane protein genes, like SPTB, SPTA1 and ANK1. Gilbert syndrome (GS) is a disease characterized by a mild deficiency of uridine diphosphate-glucuronosyltransferase 1A1 (UGT1A1) enzyme activity and unconjugated hyperbilirubinemia, largely caused by UGT1A1 mutations. The two inherited diseases HS and GS are rarely occurred in the same patient and are easy to be misdiagnosed, resulting in excessive diagnosis and treatment. Here, we report a rare case of HS combined with GS due to mutations in the SPTB and UGT1A1 genes. A 50-year-old man who had an over 40-year history of jaundice was admitted to our hospital owing to fatigue and fever. His blood analysis showed low hemoglobin (74 g/L), high reticulocyte (23.5%) and high serum bilirubin (65 µmol/L); abdominal ultrasound revealed calculous cholecystitis and splenomegaly. Considering a possible diagnosis of hemolytic anemia, further examinations showed 42% spherocytes in blood smears and high erythroid lineage hyperplasia in bone marrow. Subsequently, 151 jaundice-related genes panel sequencing was done and results showed SPTB p.N1260fs and UGT1A1 p.G71R mutations. Then the patient was diagnosed with HS complicated with GS. Anti-infection and supportive treatments were providing to the patient, while infection removed, the hemoglobin recovered to normal, and no additional treatment was given. These findings of this report indicate that patients who are considered hemolytic anemia presenting with jaundice and anemia, genetic testing is a crucial method for the final diagnosis and bilirubin metabolic disease should also be concerned.

Analysis of UGT1A1 genotype-phenotype correlation in Chinese patients with gilbert and crigler-Najjar II syndrome.

The spectrum of UDP-glucuronosyltransferase (UGT1A1) variants, which are associated with Gilbert syndrome (GS) and Crigler-Najjar syndrome (CNS-II), has been reported in Chinese and western countries. However, the genotype-phenotype correlation of the individual UGT1A1 variants in GS and CNS-II remains to be clarified. To explore the UGT1A1 variant pattern and genotype-phenotype correlations, we enrolled 310 Chinese patients, including 232 patients with GS and 78 with CNS-II. Peripheral blood samples were collected for screening variants in the gene UGT1A1 by a polymerase chain reaction and Sanger sequencing. The correlation between different UGT1A1 variants and clinical phenotypes was analyzed. A total of 21 UGT1A1 variants were identified, including nine novel variants, and constituted 42 UGT1A1 genotypes in the GS and CNS-II patients. The most common UGT1A1 variants were A (TA)7TAA, p.G71R, p.Y486D, p.P364L, and p.P229Q, which were different from western countries. The p.Y486D variant had higher minor allele frequency in CNS-II than in GS whereas the A (TA)7TAA variant had higher minor allele frequency in GS than in CNS-II. The serum total bilirubin and triglyceride had significant differences among 14 recurrent genotypes of UGT1A1, in which the serum total bilirubin in patients with compound p.Y486D (homozygous)/p.G71R variant was significantly higher compared with homozygous A (TA)7TAA, homozygous p.G71R, compound heterozygous A (TA)7TAA/p.G71R and A (TA)7TAA/p.P364L, and combined heterozygous A (TA)7TAA/p.G71R/p.P229Q, while the serum triglyceride in patients with combined A (TA)7TAA (homozygous)/p.P229Q variant was significantly higher compared with compound heterozygous A (TA)7TAA/p.G71R, single heterozygous A (TA)7TAA, single heterozygous p.G71R, and homozygous A (TA)7TAA. The spectrum of UGT1A1 genotypes in Chinese patients was distinct from western countries. There were differential levels of serum total bilirubin and triglyceride in patients with recurrent genotypes of UGT1A1.

Case Series: Hyperbilirubinemia under elexacaftor/tezacaftor/ivacaftor in the presence of Gilbert's syndrome.

Liver-related side effects are a known complication of treatment with elexacaftor/tezacaftor/ivacaftor (ETI) for cystic fibrosis (CF). Gilbert's syndrome is caused by a genetic mutation that reduces activity of the enzyme UDP glucuronosyltransferase 1 polypeptide A1 (UGT1A1), causing elevated levels of unconjugated bilirubin in the blood and duodenal bile. The presence of Gilbert's syndrome and CF might represent additive risk factors for liver-related adverse events during ETI treatment. This case series describes six people with CF (pwCF) in whom previously unknown Gilbert's syndrome was unmasked after initiation of treatment with ETI. Although all patients had some level of hepatic dysfunction and/or elevated levels of bilirubin after initiation of ETI, the clinical course varied. Only one patient had to stop ETI therapy altogether, while the others were able to continue treatment (some at a reduced dosage and others at the full recommended daily dosage). All patients, even those using a lower dosage, experienced clinical benefit during ETI therapy. Gilbert's syndrome is not a contraindication for ETI therapy but may be mistaken for a risk factor for liver-related adverse events in pwCF. This is something that physicians need to be aware of in pwCF who show liver adverse events during ETI therapy.

A Rare Presentation of Indirect Hyperbilirubinemia: Coexistence of Multiple UGT1A1 Gene Variants.

Indirect hyperbilirubinemia is a common clinical finding and rarely can be attributed to Crigler-Najjar syndrome type 2 or Gilbert syndrome. This case displays a rare presentation of indirect hyperbilirubinemia in a patient with multiple UGT1A1 gene variants. We aim to discuss the complexity of multiple UGT1A1 gene variants and its effect on the degree of observed hyperbilirubinemia.

Nutrition in Gilbert's Syndrome-A Systematic Review of Clinical Trials According to the PRISMA Statement.

Gilbert syndrome is the most common hyperbilirubinemia, associated with a mutation in the UGT1A1 bilirubin gene, which produces an enzyme that conjugates bilirubin with glucuronic acid. Episodes of jaundice occurring in GS negatively affect patients' quality of life. This systematic review aimed to analyze clinical studies regarding nutrition in people with GS. The study followed the PRISMA guidelines and utilized the Ebsco, Embase, Cochrane, PubMed, Scopus, and Web of Science databases to search clinical trials focused on diet/nutrition in GS (1963-2023 years). The methodological quality of selected studies was assessed using the Jadad scale. As a result, 19 studies met the inclusion criteria. The research mainly focused on the impact of caloric restriction, consumption of various diet variants, and vegetables and fruits on hyperbilirubinemia and metabolic health. A nutritional intervention consisting of not applying excessive calorie restrictions and consuming fats and biologically active compounds in vegetables and fruits (Cruciferae, Apiaceous, Rutaceae) may prevent the occurrence of jaundice episodes. It is justified to conduct further research on detecting such compounds in food, which, by influencing the expression of the UGT liver enzyme gene, could contribute to regulating bilirubin concentration in the blood of people with GS.

Coexistence of hereditary spherocytosis with SPTB P.Trp1150 gene variant and Gilbert syndrome: A case report and literature review.

A congenital protein anomaly in the erythrocyte membrane skeleton causes a hereditary haemolytic illness known as hereditary spherocytosis (HS). The primary characteristic of HS is an increase in the number of tiny spherical red blood cells in the peripheral blood. The chief clinical features of HS include anaemia, jaundice, splenomegaly, spherical erythrocytosis in the blood, chronic anaemia with haemolysis, and recurrent acute attacks. Most patients have a family history; some have autosomal recessive inheritance, whereas most have autosomal dominant inheritance. In cases of severe hyperbilirubinemia disproportionate to haemolysis, other causes of hyperbilirubinemia should be considered. Gilbert syndrome (GS) is an autosomal dominant illness caused by the reduced activity of uridine diphosphate-glucuronosyl transferase lAl and is characterised by intermittent hyperbilirubinemia without any other signs or symptoms of liver disease. The possibility of the coexistence of HS and GS is very limited. Here we present the case of an elderly man with yellow skin and sclera recurring anaemia, and a final diagnosis of coexisting HS and GS.

Genetic variation in UGT1A1 is not associated with altered liver biochemical parameters in healthy volunteers participating in bioequivalence trials.

Introduction: Bioequivalence clinical trials are conducted in healthy volunteers whose blood tests should be within normal limits; individuals with Gilbert syndrome (GS) are excluded from these studies on suspicion of any liver disease, even if the change is clinically insignificant. GS is a benign genetic disorder characterized by elevated bilirubin levels, the primary cause of which is the presence of polymorphisms in UGT1A1 gene. In this work, subjects with UGT1A1 intermediate (IM) or poor (PM) metabolizer genotype-informed phenotypes were investigated to determine whether they have a higher incidence of liver disease or other biochemical parameters. Methods: The study population comprised 773 healthy volunteers who underwent biochemical analysis at baseline and at the end of the study which were genotyped for UGT1A1*80 (rs887829), as an indicator of UGT1A1*80+*28 (rs887829 and rs3064744), and UGT1A1*6 (rs4148323). Results: Bilirubin levels were higher in subjects IMs and PMs compared to normal metabolizers (NMs). Decreased uric acid levels was observed in PMs compared to NMs. No associations were observed in liver enzyme levels according to UGT1A1 phenotype. Discussion: Considering that there is no hepatic toxicity in subjects with UGT1A1 IM or PM phenotype, who are more likely to develop GS, this study suggests that they could be included in bioequivalence clinical trials as their biochemical parameters are not affected outside normal ranges.

[Correlation between the mutation spectrum of the UGT1A1 gene and clinical phenotype in patients with inherited hyperunconjugated bilirubinemia].

Objective: To analyze the distribution characteristics of UGT1A1 mutant genes (including enhancers, promoters, and exons 1-5) and further explore the correlation between UGT1A1 genotype and clinical phenotypes in patients with inherited hyperunconjugated bilirubinemia. Methods: Patients diagnosed with hereditary hyperunconjugated bilirubinemia at Nanjing Second Hospital from June 2015 to December 2022 were retrospectively analyzed. The UGT1A1 gene was examined using Sanger sequencing in all patients. Complete blood count, liver function, and abdominal imaging examinations were performed. Comparison of categorical variable data using χ(2) testor Fisher percision tests. Comparison of continaous veriable data with normal distribution using t-test. Results: 112 cases (male:female ratio 81:31, aged 9-70 years) had inherited hyperunconjugated bilirubinemia, with a total of 14 mutation sites identified, of which seven were confirmed mutations, and the frequency ranged from high to low: (TA)n accounted for 50%, c.211G>A (p.G71R) accounted for 49.10%, 1456T>G (p.Y486D) accounted for 16.96%, c.686C>A (p.R229W) accounted for 12.5%, 1091C>T (p.P364L) accounted for 8.04%, and c- 3279T>G accounted for 0.982%. Simultaneously, all patients had one to four mutations, of which only one mutation was the most common (55.36%), followed by two mutations (37.5%), and rare three and four mutations (5.36% and 1.78%). There was no statistical significance in total bilirubin (TBil) levels among the four groups (F=0.652, P=0.583). One mutation was most common in (TA)n and c.211G>A (p.G71R), among which TA6/TA7 (n=10) and TA7/TA7 (n=14) mutations were statistically significant in TBil (t=2.143, P=0.043). The c.211G>A (p.G71R) heterozygous (n=9) and isolated (n=15) mutation had no statistical significance in TBil (t=0.382, P=0.706). The GS group accounted for 75%, the intermediate group accounted for 16.9%, and the CNS-Ⅱ group accounted for 8%. TBil was statistically significant among the three groups (F=270.992, P<0.001). There was no statistically significant difference (χ(2)=3.317, P=0.19) between mutation 1 (44 cases, 14 cases, and 4 cases, respectively) and mutations ≥ 2 (40 cases, 5 cases, and 5 cases, respectively) in the GS group, intermediate group, and CNS-II group. Conclusion: The number of UGT1A1 gene mutation sites may have no synergistic effect on TBil levels in patients with inherited hyperunconjugated bilirubinemia. TA7/TA7 mutations are not uncommon, and TBil levels are relatively high.

Evaluating the Gilbert-Varshamov Bound for Constrained Systems.

We revisit the well-known Gilbert-Varshamov (GV) bound for constrained systems. In 1991, Kolesnik and Krachkovsky showed that the GV bound can be determined via the solution of an optimization problem. Later, in 1992, Marcus and Roth modified the optimization problem and improved the GV bound in many instances. In this work, we provide explicit numerical procedures to solve these two optimization problems and, hence, compute the bounds. We then show that the procedures can be further simplified when we plot the respective curves. In the case where the graph presentation comprises a single state, we provide explicit formulas for both bounds.

Identification of a novel splice variant in SEC23B gene in a patient with concomitant presence of congenital dyserythropoietic anemia II and Gilbert's syndrome.

BACKGROUND: Congenital dyserythropoietic anemia Ⅱ (CDA Ⅱ) is a rare inherited disorder of defective erythropoiesis caused by SEC23B gene mutation. CDA Ⅱ is often misdiagnosed as a more common type of clinically related anemia, or it remains undiagnosed due to phenotypic variability caused by the coexistence of inherited liver diseases, including Gilbert's syndrome (GS) and hereditary hemochromatosis. METHODS: We describe the case of a boy with genetically undetermined severe hemolytic anemia, hepatosplenomegaly, and gallstones whose diagnosis was achieved by targeted next generation sequencing. RESULTS: Molecular analysis revealed a maternally inherited novel intronic variant and a paternally inherited missense variant, c.[994-3C > T];[1831C > T] in the SEC23B gene, confirming diagnosis of CDA Ⅱ. cDNA analysis verified that the splice acceptor site variant results in two mutant transcripts, one with an exon 9 skip and one in which exons 9 and 10 are deleted. SEC23B mRNA levels in the patient were lower than those in healthy controls. The patient was also homozygous for the UGT1A1*6 allele, consistent with GS. CONCLUSION: Identification of the novel splice variant in this study further expands the spectrum of known SEC23B gene mutations. Molecular genetic approaches can lead to accurate diagnosis and management of CDA Ⅱ patients, particularly for those with GS coexisting.

Thickness-Dependent Gilbert Damping and Soft Magnetism in Metal/Co-Fe-B/Metal Sandwich Structure.

The achievement of the low Gilbert damping parameter in spin dynamic modulation is attractive for spintronic devices with low energy consumption and high speed. Metallic ferromagnetic alloy Co-Fe-B is a possible candidate due to its high compatibility with spintronic technologies. Here, we report thickness-dependent damping and soft magnetism in Co-Fe-B films sandwiched between two non-magnetic layers with Co-Fe-B films up to 50 nm thick. A non-monotonic variation of Co-Fe-B film damping with thickness is observed, which is in contrast to previously reported monotonic trends. The minimum damping and the corresponding Co-Fe-B thickness vary significantly among the different non-magnetic layer series, indicating that the structure selection significantly alters the relative contributions of various damping mechanisms. Thus, we developed a quantitative method to distinguish intrinsic from extrinsic damping via ferromagnetic resonance measurements of thickness-dependent damping rather than the traditional numerical calculation method. By separating extrinsic and intrinsic damping, each mechanism affecting the total damping of Co-Fe-B films in sandwich structures is analyzed in detail. Our findings have revealed that the thickness-dependent damping measurement is an effective tool for quantitatively investigating different damping mechanisms. This investigation provides an understanding of underlying mechanisms and opens up avenues for achieving low damping in Co-Fe-B alloy film, which is beneficial for the applications in spintronic devices design and optimization.

MDS, Hermitian almost MDS, and Gilbert-Varshamov quantum codes from generalized monomial-Cartesian codes.

We construct new stabilizer quantum error-correcting codes from generalized monomial-Cartesian codes. Our construction uses an explicitly defined twist vector, and we present formulas for the minimum distance and dimension. Generalized monomial-Cartesian codes arise from polynomials in m variables. When m=1 our codes are MDS, and when m=2 and our lower bound for the minimum distance is 3, the codes are at least Hermitian almost MDS. For an infinite family of parameters, when m=2 we prove that our codes beat the Gilbert-Varshamov bound. We also present many examples of our codes that are better than any known code in the literature.

Theory of tensorial Gilbert damping in antiferromagnets.

Although the magnetic Gilbert damping was considered as a scalar quantity in micromagnetic and atomistic spin simulations, recent investigations show that the Gilbert damping parameter is a tensor. Here, we investigate the effect of anisotropic and chiral damping in one-sublattice ferromagnets and two-sublattice antiferromagnets. We employ linear response theory to calculate the susceptibility with the damping tensor and determine the ferromagnetic and antiferromagnetic resonance frequencies together with the effective damping. Our results show that apart from the scalar Gilbert damping, the antisymmetric chiral damping has a significant contribution to the spin dynamics that it breaks the antiparallel alignment of two sublattices in antiferromagnets even in the absence of an applied field. To this end, we also compare the tensorial damping and cross-sublattice scalar damping in antiferromagnets.

Acalculous Cholecystitis as a Complication of Primary Epstein-Barr Virus Infection: A Case-Based Scoping Review of the Literature.

Primary Epstein-Barr virus (EBV) infection manifests with diverse clinical symptoms, occasionally resulting in severe complications. This scoping review investigates the rare occurrence of acute acalculous cholecystitis (AAC) in the context of primary EBV infection, with a focus on understanding its prevalence, clinical features, and underlying mechanisms. The study also explores EBV infection association with Gilbert syndrome, a condition that potentially exacerbates the clinical picture. Additionally, a case report of an 18-year-old female presenting with AAC and ascites secondary to EBV infection enhances the review. A comprehensive literature review was conducted, analyzing reported cases of AAC secondary to EBV infection. This involved examining patient demographics, clinical presentations, laboratory findings, and outcomes. The search yielded 44 cases, predominantly affecting young females. Common clinical features included fever, cervical lymphadenopathy, tonsillitis/pharyngitis, and splenomegaly. Laboratory findings highlighted significant hepatic involvement. The review also noted a potential link between AAC in EBV infection and Gilbert syndrome, particularly in cases with abnormal bilirubin levels. AAC is a rare but significant complication of primary EBV infection, primarily observed in young females, and may be associated with Gilbert syndrome. This comprehensive review underscores the need for heightened clinical awareness and timely diagnosis to manage this complication effectively.

Prolonged Jaundice in a Premature Breastfed Infant With Gilbert's Syndrome.

INTRODUCTION: Neonatal jaundice and prematurity pose significant barriers to breastfeeding in the first days of life. There is limited literature exploring the relationship between prolonged jaundice in breastfed infants and Gilbert's (Meulengraght) syndrome. This case study describes the diagnostic and therapeutic challenges associated with Gilbert's syndrome in a late preterm breastfed infant born in Germany. MAIN ISSUE: In this case report, an infant born to a primipara woman presented at 3 weeks postpartum to an International Board Certified Lactation Consultant. The initial assessment revealed a late preterm infant with inadequate weight gain and jaundice. The dyad received breastfeeding support and eventually achieved adequate weight gain; however, the infant's jaundice persisted. MANAGEMENT: The consulting midwife suggested that the persistent jaundice was "breastmilk jaundice" and recommended temporarily interrupting breastfeeding. Due to a suspected family history of Gilbert's Syndrome, the dyad was referred, instead, to a pediatric gastroenterologist. Pathologic liver disease was excluded, and genetic testing confirmed Gilbert's Syndrome. At 6 months of age, the dyad was successfully breastfeeding and beginning complementary feeding. CONCLUSION: Genetic testing for Gilbert's Syndrome should be considered for infants with prolonged jaundice and positive family history. Interruption or cessation of breastfeeding are not evidence-based recommendations, and current guidelines do not support these practices. Lactation professionals play a critical role in the management of breastfeeding for preterm infants with prolonged jaundice and should refer to specialists to rule out pathologic etiologies.