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PURPOSE: Hip arthroscopy is effective in treating bordline developmental dysplasia of the hip (BDDH), but there are only a few clinical reports in China, and its postoperative failure rate is still a problem that cannot be ignored. The aim of this study was to analyze the clinical effect of hip arthroscopy in BDDH treatment in China and to explore the risk factors influencing the efficacy of hip arthroscopy in BDDH treatment. METHODS: All of 22 cases of BDDH treated with arthroscopy in our hospital from November March 2017 to February 2022 were analyzed retrospectively, including ten males and 12 females, with an average age of 34.7 ± 9.5 years (19-53 years). All patients underwent arthroscopic treatment with acetabular plasty, labral repair, femoral osteoplasty, and capsular plication. Visual Analogue Scale (VAS), modified Harris Hip Scores (mHHS), Hip Outcome Score-activities of Daily Living (HOS-ADL) and International Hip Outcome Tool-12 (iHOT-12) were measured before operation and at the follow-up, and statistical analysis was performed. The Minimum clinically significant difference (MCID) and Patient Acceptable Symptom State (PASS) were also obtained. RESULTS: 22 patients were followed up, and the follow-up time was ≥ one year, with an average of 21.4 ± 8.2 months. The VAS score decreased from 5.27 ± 1.58 points before surgery to 1.96 ± 0.92 points at the follow-up, and the difference was statistically significant (t = 9.05,P < 0.001). The mHHS score increased from 64.84 ± 13.58 points before surgery to 90.4 ± 10.11 points at the follow-up, and the difference was statistically significant (t=-7.07, P < 0.001). The HOS-ADL score increased from 68.92 ± 11.76 points before surgery to 88.91 ± 9.51 points at the follow-up, and the difference was statistically significant (t=-8.15,P < 0.001). The iHOT-12 score increased from 49.32 ± 12.01 points before surgery to 79.61 ± 15.89 points at the follow-up, and the difference was statistically significant (t=-7.66,P < 0.001). The MCID (mHHS) and MCID (HOS-ADL) were 81.8% and 77.3% respectively, and the PASS (mHHS) and PASS (HOS-ADL) were 86.4% and 72.7% respectively at the follow-up. CONCLUSION: Hip arthroscopy can achieve good short-term outcomes in the treatment of BDDH. LEVEL OF EVIDENCE: IV Therapeutic Study.

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BACKGROUND: Carotid web is a thin shelf-like fibrointimal membrane arising from the posterior or posterolateral wall of the carotid bulb. Webs cause stroke, especially in younger adults with high risk of recurrence. METHODS: To report the first case of de-novo formation of an asymptomatic carotid web and describe longitudinal clinical-angiographic follow-up. RESULTS: A previously healthy 50-year-old White female presented with acute vestibular syndrome. Brain MRI showed no brain infarction. An arch-to-vertex CT angiogram showed normal posterior circulation, however, the left internal carotid artery bulb had a thin shelf-like projection into the lumen arising from the posterior wall of the artery - an incidental carotid web. A CT angiogram performed seven years earlier showed normal carotid arteries. The three-year angiographic follow-up showed an unchanged angiographic appearance of the carotid web. The patient preferred staying on aspirin and suffered no retinal or cerebral ischemic event during the 5-year clinic follow-up. CONCLUSION: Our case suggests de novo (acquired) formation of a carotid web in an adult. This challenges the prevailing theory that carotid web is a congenital/developmental lesion.

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This study aimed to investigate the correlation between ossific nucleus volume and avascular necrosis (AVN) in pediatric patients diagnosed with developmental dysplasia of the hip (DDH). Analyzing 211 cases, including 119 open reduction (OR) and 92 closed reduction (CR) procedures, we quantified ossific nucleus volume using magnetic resonance imaging (MRI). Categorizing the OR group based on ossific nucleus volume revealed no statistically significant difference in AVN incidence. Similarly, in the CR cohort, there was no significant discrepancy in AVN occurrence between subgroups with or without the ossific nucleus. Logistic regression in CR identified the international hip dysplasia institute (IHDI) grade as a significant AVN risk factor (p = 0.007). IHDI grades 3 and 4 exhibited a 6.94 times higher likelihood of AVN compared to grades 1 and 2. Across CR and OR, neither initial age nor ossific nucleus volume emerged as AVN risk factors. In conclusion, ossific nucleus volume does not pose a risk for AVN in DDH children undergoing CR or OR, emphasizing the clinical significance of IHDI grading in predicting AVN risk during CR and the importance of early intervention to prevent treatment delays.

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Prematurity is associated with lower exercise capacity, which relies on the integrity of the cardiovascular, pulmonary, and skeletal muscle systems. Our animal model mimicking prematurity-associated conditions showed altered muscle composition and atrophy in adulthood. This study aimed to compare muscle composition and strength in adults born preterm versus full-term controls. This observational cohort study recruited 55 adults born preterm, ≤ 29 weeks' of gestation and 53 full-term controls who underwent musculoskeletal ultrasound imaging to assess morphology of the rectus femoris at rest and during a maximal voluntary contraction. Maximal voluntary contraction of the hands and legs were measured by manual dynamometry. In adults born preterm, there was lower muscle strength (handgrip: - 4.8 kg, 95% CI - 9.1, - 0.6; knee extensor: - 44.6 N/m, 95% CI - 63.4, - 25.8) and smaller muscle area (- 130 mm2, 95% CI - 207, - 53), which was more pronounced with a history of bronchopulmonary dysplasia. Muscle stiffness was increased in the preterm versus term group (0.4 m/s, 95% CI 0.04, 0.7). Prematurity is associated with alterations in skeletal muscle composition, area, and function in adulthood. These findings highlight the necessity to implement preventive and/or curative approaches to improve muscle development and function following preterm birth to enhance overall health in this population.

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Lipodystrophic laminopathies are a group of ultra-rare disorders characterised by the presence of pathogenic variants in the same gene (LMNA) and other related genes, along with an impaired adipose tissue pattern and other features that are specific of each of these disorders. The most fascinating traits include their complex genotype-phenotype associations and clinical heterogeneity, ranging from Dunnigan disease, in which the most relevant feature is precisely adipose tissue dysfunction and lipodystrophy, to the other laminopathies affecting adipose tissue, which are also characterised by the presence of signs of premature ageing (Hutchinson Gilford-progeria syndrome, LMNA-atypical progeroid syndrome, mandibuloacral dysplasia types A and B, Nestor-Guillermo progeria syndrome, LMNA-associated cardiocutaneous progeria). This raises several questions when it comes to understanding how variants in the same gene can lead to similar adipose tissue disturbances and, at the same time, to such heterogeneous phenotypes and variable degrees of metabolic abnormalities. The present review aims to gather the molecular basis of adipose tissue impairment in lipodystrophic laminopathies, their main clinical aspects and recent therapeutic strategies. In addition, it also summarises the key aspects for their differential diagnosis.

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Background: Placental mesenchymal dysplasia (PMD) is a rare placental vascular malformation of unknown etiology. PMD may coexist with a healthy fetus, and its ultrasound appearance is similar to that of a hydatidiform mole, especially the partial type. Prenatal ultrasonography is vital for accurate diagnosis of these conditions. This study aimed to summarize the characteristics of prenatal ultrasonographic images across different gestational weeks (W) for PMD and evaluate and analyze factors that influence pregnancy outcomes related to PMD. The goal is to improve the diagnosis of PMD, effectively assess fetal prognosis, and provide a reference for prenatal consultations and clinical management. Case Description: Of the 15 included patients, 4, 8, and 3 had PMD in early pregnancy (<13+6 W), mid-pregnancy (approximately 14-27+6 W), and late pregnancy (>28 W), respectively. Among the 15 patients, 5 successfully underwent delivery, thereby resulting in fetal survival; 3 experienced intrauterine death, 1 had a miscarriage, and 6 pregnancies were terminated. During early pregnancy, ultrasonographic manifestations of PMD included microscopic anechoic cystic areas in the placental parenchyma. In the second trimester, the placenta exhibited diffuse enlargement and thickening, with the placental parenchyma showing cellular anechoic cystic areas clearly separated from the surrounding normal placental tissue. As the pregnancy progressed, the cystic areas gradually reduced in the third trimester. Additionally, localized umbilical blood vessels showed tumorous lesions, sometimes accompanied by intravascular thrombosis. Some cases exhibited tortuosity and dilation in the umbilical vein. Conclusions: PMD exhibited varying ultrasonographic characteristics across different gestational stages and demonstrated regular disease evolution corresponding to gestational W. This condition is associated with adverse pregnancy outcomes, with the location, extent, and severity of lesions being crucial factors affecting fetal development in utero.

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BACKGROUND: To evaluate the impact of implementation of 2019 European respiratory distress syndrome (RDS) guidelines on the incidence of bronchopulmonary dysplasia (BPD). METHOD: We retrospectively collected the clinical data of very preterm infants (VPIs) born before 32 gestational weeks from January 1st 2018 to December 31st 2021. VPIs were divided into group A and group B according to their birth date which was before or at/after January 1st 2020, when the 2019 European RDS guidelines were introduced. BPD is considered as primary outcome. We statistically analyzed all the data, and we compared the general characteristics, ventilation support, medication, nutrition and the outcomes between the two groups. RESULTS: A total of 593 VPIs were enrolled, including 380 cases in group A and 213 cases in group B. There were no statistic differences regarding to gender ratio, gestational age, birth weight and delivery mode between the two groups. Compared with group A, group B showed higher rate of antenatal corticosteroid therapy (75.1% vs. 65.5%). The improvement of ventilation management in these latter patients included lower rate of invasive ventilation (40.4% vs. 50.0%), higher rate of volume guarantee (69.8% vs. 15.3%), higher positive end expiratory pressure (PEEP) [6 (5, 6) vs. 5 (5, 5) cmH2O] and higher rate of synchronized nasal intermittent positive pressure ventilation (sNIPPV) (36.2% vs. 5.6%). Compared with group A, group B received higher initial dose of pulmonary surfactant [200 (160, 200) vs. 170 (130, 200) mg/Kg], shorter antibiotic exposure time [13 (7, 23) vs. 17 (9, 33) days], more breast milk (86.4% vs. 70.3%) and earlier medication for hemodynamically significant patent ductus arteriosus (hsPDA) treatment [3 (3, 4) vs. 8 (4, 11) days] (p < 0.05). As the primary outcome, the incidence of BPD was significantly decreased (16.9% vs. 24.2%) (p < 0.05), along with lower extrauterine growth retardation (EUGR) rate (39.0% vs. 59.7%), while there were no statistic differences regarding to other secondary outcomes, including mortality, intraventricular hemorrhage (IVH), periventricular leukomalacia (PVL), retinopathy of preterm (ROP) and necrotizing enterocolitis (NEC). However, in the subgroups of infants less than 28 gestational weeks or infants less than 1,000 g, the incidence of BPD was not significantly decreased (p > 0.05). CONCLUSIONS: After implementation of 2019 European RDS guidelines, the overall incidence of BPD was significantly decreased in VPIs. Continuous quality improvement is still needed in order to decrease the incidence of BPD in smaller infants who are less than 28 gestational weeks or less than 1,000 g.

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Background and objectives: Derum, the bark of walnut tree (Juglans regia) has been used as a traditional tooth cleanser and chewed for its ability to bestow purple color to oral mucosa, tongue and lips Studies have shown that derum extract could affect oral epithelium after long term exposure, causing dysplasia. The aim of this in-vivo study was to evaluate the degree of epithelial dysplasia caused by varying durations and frequencies of topical derum application on oral mucosa of rabbits. Materials and Methods: Following ethical approval, derum extract was applied to the buccal vestibule of New Zealand white rabbits over three different periods (60 days, 120 days, 180 days) and two different protocols were used (daily application and once every 3 days). Accordingly, the animals were divided into four groups (A - daily derum application/B - derum applied once in 3 days/C - Positive control and acetone applied every alternate day/D - negative control), and three batches (I - 60 days/II - 120 days/III - 180 days). The animals were sacrificed, and oral biopsies prepared and examined under light microscope. The magnitude of epithelial changes was evaluated using epithelial atypia index (EAI) based on Smith and Pindborg histological grading system (1969) for epithelial dysplasia. Results: Mild dysplastic changes were detected in animals treated with derum extract regardless of the period of application. Similar results were noted among positive control group, and highest score was recorded in group A followed by group B with high tendency towards long-term derum application. Moderate changes were encountered only in group A that received derum for 180 days. Statistically, long-term derum application (180 days / Batch III in groups A and B), irrespective of the frequency of application, resulted in significantly higher mean EAI scores than all other groups or batches. Conclusion: Based on this study, prolonged and frequent use of derum can induce dysplastic changes in rabbit oral mucosa, ranging from mild to moderate dysplasia. Further studies with extended times of exposure of derum to oral mucosa are recommended to document these adverse effects as an evidence base.

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Bronchopulmonary dysplasia (BPD) is fundamentally characterized by the arrest of lung development and abnormal repair mechanisms, which result in impaired development of the alveoli and microvasculature. Hepatocyte growth factor (HGF), secreted by pulmonary mesenchymal and endothelial cells, plays a pivotal role in the promotion of epithelial and endothelial cell proliferation, branching morphogenesis, angiogenesis, and alveolarization. HGF exerts its beneficial effects on pulmonary vascular development and alveolar simplification primarily through two pivotal pathways: the stimulation of neovascularization, thereby enriching the pulmonary microvascular network, and the inhibition of the epithelial-mesenchymal transition (EMT), which is crucial for maintaining the integrity of the alveolar structure. We discuss HGF and its receptor c-Met, interact with various growth factors throughout the process of lung development and BPD, and form a signaling network with HGF as a hub, which plays the pivotal role in orchestrating and integrating epithelial, endothelial and mesenchymal.

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Myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML) are heterogeneous neoplasms of hematopoietic stem cells that are challenging to diagnose, differentiate, and prognosticate. Cytogenetic and mutational analyses are useful in humans but unavailable for dogs, where diagnosis and classification still rely largely on hematologic and morphologic assessment. The objectives of this study were to apply a classification scheme to myeloid neoplasms and to assess outcome in relation to predictor variables. Keyword search of a laboratory database, application of sequential exclusion criteria, and consensus from 3 reviewers yielded 70 cases of myeloid neoplasia with hematology results, and cytologic (11), histologic (14), or both (45) types of marrow specimens. Based on blast percentage and morphology, 42 cases were classified as MDS and 28 as AML. Dogs with MDS had significantly lower body weights, hemoglobin concentrations and blood blasts, and higher red blood cell size variability and platelet numbers than dogs with AML. Estimates of median survival using Kaplan-Meier curves for dogs with MDS and AML were 384 and 6 days, respectively (P < .001). The instantaneous risk of death for dogs with MDS was approximately 5× lower than that of dogs with AML. Significant predictor variables of survival were body weight, white blood cell count, platelet count, and percent blood blasts (P < .05). Hazard ratios (HRs) derived from best-fitting Cox regression models were 1.043, 0.998, and 1.061 for increased neutrophils, decreased platelets, and increased blood blasts, respectively. Findings from this study suggest that hematologic and morphologic variables are useful to predict outcomes in myeloid neoplasia.

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Schimke immuno-osseous-dysplasia (SIOD) is an autosomal recessive systemic disease due to pathogenic variants in SMARCAL1. Manifestations include nephrotic syndrome (NS), kidney failure, T-cell dysfunction, vaso-occlusive disease, and disproportionate short stature, a general feature of this disease. Here, we present a markedly different growth pattern in two brothers with SIOD sharing the same homozygous R561C missense variant. The index patient presented at the age of 11 years with NS and severely disproportionate short stature, followed by kidney failure at the age of 16, and severely reduced adult height (z-score - 8.0). In contrast, the younger brother showed normal growth until the age of 8 years. Mild proteinuria was noted at the age of 4.5, followed by NS at 9.5 years, kidney failure at 11 years, progressive disproportionate stature, and reduced adult height (z-score - 4.5). Both brothers had comparable disproportion in adulthood (sitting height index z-score - 0.88 and - 1.44, respectively).

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INTRODUCTION: Renovascular hypertension (RVH) remains underdiagnosed despite its significant cardiovascular and renal morbidity. AIM: This survey investigated screening and management practices for RVH among hypertensive patients in Italian hypertension centres in a real-life setting. Secondary, we analysed the current spread of renal denervation (RDN) and the criteria used for its eligibility. METHODS: A 12 item-questionnaire was sent to hypertension centres belonging to the European Society of Hypertension and to the Italian Society of Hypertension (SIIA) in Italy. Data concerning the screening and management of RVH and of RDN were analysed according to the type of centre (excellence vs non-excellence centres), geographical area and medical specialty. RESULTS: Eighty-two centres participated to the survey. The number of patients diagnosed in each centre with RVH and fibromuscular dysplasia during the last five years was 3 [1;6] and 1 [0;2], respectively. Despite higher rates of RVH diagnosis in excellence centres (p = 0.017), overall numbers remained unacceptably low, when compared to expected prevalence estimates. Screening rates were inadequate, particularly among young hypertensive patients, with only 28% of the centres screening for RVH in such population. Renal duplex ultrasound was underused, with computed tomographic angiography or magnetic resonance angiography reserved for confirming a RVH diagnosis (76.8%) rather than for screening (1.9-32.7%, according to patients' characteristics). Scepticism and logistical challenges limited RDN widespread adoption. CONCLUSIONS: These findings underscore the need for improving RVH screening strategies and for a wider use of related diagnostic tools. Enhanced awareness and adherence to guidelines are crucial to identifying renovascular hypertension and mitigating associated cardiovascular and renal risks.

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The objective of this study was to identify and characterize oxidative stress (OS)-related biomarkers in bronchopulmonary dysplasia (BPD) through a combination of bioinformatics analyses and wet experiments. The study utilized the Gene Expression Omnibus database to obtain the mRNA expression profile dataset GSE32472. Differential expression analysis and functional enrichment analysis were employed to investigate the role of OS-related genes in BPD. Gene Ontology Function Enrichment Analysis and Gene Set Enrichment Analysis were conducted to understand the mechanisms behind the signature. Protein-protein interaction analysis to identify hub genes in BPD, and predictions were made for microRNAs (miRNAs), transcription factors (TFs), and potential medications targeting these genes. CIBERSORT was utilized to investigate the correlation between hub genes and the infiltration of immune cells. Hub genes were ultimately determined and confirmed using expression analysis, correlation analysis, receiver operating characteristic (ROC) analysis, and quantitative real-time PCR (qRT-PCR). A novel OS-related gene signature (ARG1, CSF3R, IL1R1, IL1R2, MMP9, RETN, S100A12, and SOCS3) was constructed for the prediction of BPD. We identified 18 miRNAs, 14 TFs, and 30 potential medications targeting these genes. ROC analysis further validated that these genes could diagnose BPD with high specificity and sensitivity. The qRT-PCR revealed that IL1R1 and ARG1 were highly expressed in the lung tissue of the model group, while the expressions of RETN, SOCS3, IL1R2, and MMP9 were decreased. This study demonstrated that ARG1, CSF3R, IL1R1, IL1R2, MMP9, RETN, S100A12, and SOCS3 may serve as potential diagnostic biomarkers in BPD. Furthermore, a significant association between IL1R1 and the pathogenesis of BPD is observed.

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INTRODUCTION: Bronchopulmonary dysplasia (BPD) stands as the primary chronic respiratory complication in premature infants, posing a substantial public health concern due to its rising prevalence, potential mortality, and socioeconomic burden. AIM: The aim of this study was to determine the prevalence of BPD in very preterm infants and identify its associated risk factors. METHODS: We conducted a retrospective, descriptive, and analytical study including all premature infants born between 26 and 31 weeks of gestation age (GA) who survived beyond the 28th day of life, over a five-year period (2017-2021). Patients were divided into two groups based on the presence or absence of BPD, which was defined by the need for oxygen supplementation for at least 28 days. RESULTS: we included 231 newborns. The prevalence of BPD was 37.7% among survivors on the 28th day of life and 36.7% among those reaching 36 weeks postmenstrual age. BPD was mild, moderate and severe in 25.2%, 4.9% and 6.6% of cases, respectively. Multivariate analysis identified maternal hypertensive disorders (RR=6.15, 95%CI=[2.27-16.67], p<0.001), chorioamnionitis (RR=4.23, 95%CI=[1.25 -14.27], p=0.02), intrauterine growth restriction (IUGR) (RR =20.4, 95%CI=[3.39 -122.66], p=0.001), GA less than 30 weeks (RR=26.97, 95%CI=[10.23 -71.14], p<0.001), and mechanical ventilation (MV) (RR=5.33, 95%CI=[1.95-14.54], p=0.001) as independent factors associated with BPD occurrence. The mortality rate was 10.3% among patients with BPD versus 0.7% in patients without BPD (p = 0.001). CONCLUSION: Our study revealed a high prevalence of BPD in very preterm infants and identified several independent risk factors such as maternal hypertensive disorders, IUGR, chorioamnionitis, MV, and GA less than 30 weeks.

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OBJECTIVES: The aim of the study was to evaluate the perioperative outcomes and complications of single session bilateral femoral head and neck excision (FHNE) in cats for treatment of bilateral coxofemoral joint disease. METHODS: The medical records of cats undergoing a single session bilateral FHNE were identified and the history, signalment, diagnosis, surgery reports, anesthetic records, postoperative radiographs, postoperative examinations, complications and outcomes were recorded. RESULTS: A total of 39 cats undergoing a single session bilateral FHNE were included. Bilateral slipped capital femoral epiphysis was the most commonly diagnosed etiology. All cats were discharged within 48 h of the procedure. One major complication and five minor complications were reported. All but one cat returned to normal activity and no owners reported concerns after the 2-week postoperative recheck. CONCLUSIONS AND RELEVANCE: Single session bilateral FHNE is a viable surgical option for the treatment of bilateral coxofemoral disease in cats that results in a quick return to function, especially when other options are not indicated, available or affordable.

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Acromesomelic dysplasia (AMD) is an umbrella term given to a heterogeneous group of progressive skeletal disorders characterized by short limbed dwarfism associated with disproportionate shortening of middle and distal segments of the upper as well as lower limbs. Although specific skeletal anomalies are difficult to diagnose antenatally, but because of their antenatal and postnatal implications and a possibility of reoccurrence in following pregnancies, such skeletal anomalies need to be actively addressed. A combination of radiologic, pathologic, genetic and molecular investigation prenatally as well as postnatally is required to classify a specific congenital skeletal dysplasia. Once the genetic make-up of fetal skeletal dysplasia is deciphered, a meaningful genetic counselling could be offered for future pregnancies of affected families. We describe a case of primigravida diagnosed with fetal unilateral upper limb AMD on antenatal ultrasound done at early second trimester. The radius and ulna of left upper limb were abnormally short (less than 5th centile of the mean for that gestational age). The left hand was also hypoplastic. Rest of the sonographic anomaly scan was normal. To the best of our knowledge, AMD limited to unilateral upper limb diagnosed antenatally as an isolated finding is not described in the medical literature so far.

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This article describes how the transcriptional alterations of the innate immune system divide dysplasias into aggressive forms that, despite the treatment, relapse quickly and more easily, and others where the progression is slow and more treatable. It elaborates on how the immune system can change the extracellular matrix, favoring neoplastic progression, and how infections can enhance disease progression by increasing epithelial damage due to the loss of surface immunoglobulin and amplifying the inflammatory response. We investigated whether these dysregulated genes were linked to disease progression, delay, or recovery. These transcriptional alterations were observed using the RNA-based next-generation sequencing (NGS) panel Oncomine Immune Response Research Assay (OIRRA) to measure the expression of genes associated with lymphocyte regulation, cytokine signaling, lymphocyte markers, and checkpoint pathways. During the analysis, it became apparent that certain alterations divide dysplasia into two categories: progressive or not. In the future, these biological alterations are the first step to provide new treatment modalities with different classes of drugs currently in use in a systemic or local approach, including classical chemotherapy drugs such as cisplatin and fluorouracile, older drugs like fenretinide, and new checkpoint inhibitor drugs such as nivolumab and pembrolizumab, as well as newer options like T cell therapy (CAR-T). Following these observed alterations, it is possible to differentiate which dysplasias progress or not or relapse quickly. This information could, in the future, be the basis for determining a close follow-up, minimizing surgical interventions, planning a correct and personalized treatment protocol for each patient and, after specific clinical trials, tailoring new drug treatments.

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Skeletal disorders encompass a wide array of conditions, many of which are associated with short stature. Among these, Desbuquois dysplasia is a rare but severe condition characterized by profound dwarfism, distinct facial features, joint hypermobility with multiple dislocations, and unique vertebral and metaphyseal anomalies. Desbuquois dysplasia is inherited in an autosomal recessive manner, with both the DBQD1 (MIM 251450) and DBQD2 (MIM 615777) forms resulting from biallelic mutations. Specifically, DBQD1 is associated with homozygous or compound heterozygous mutations in the CANT1 gene, while DBQD2 can result from mutations in either the CANT1 or XYLT1 genes. This review synthesizes the findings of 111 published case reports, including 54 cases of DBQD1, 39 cases of DBQD2, and 14 cases of the Kim variant (DDKV). Patients in this cohort had a median birth weight of 2505 g, a median length of 40 cm, and a median occipitofrontal circumference of 33 cm. The review highlights the phenotypic variations across Desbuquois dysplasia subtypes, particularly in facial characteristics, joint dislocations, and bone deformities. Genetic analyses revealed a considerable diversity in mutations, with over 35% of cases involving missense mutations, primarily affecting the CANT1 gene. Additionally, approximately 60% of patients had a history of parental consanguinity, indicating a potential genetic predisposition in certain populations. The identified mutations included deletions, insertions, and nucleotide substitutions, many of which resulted in premature stop codons and the production of truncated, likely nonfunctional proteins. These findings underscore the genetic and clinical complexity of Desbuquois dysplasia, highlighting the importance of early diagnosis and the potential for personalized therapeutic approaches. Continued research is essential to uncover the underlying mechanisms of this disorder and improve outcomes for affected individuals through targeted treatments.

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Ghosal hematodiaphyseal dysplasia (GHDD) is an autosomal recessive disorder characterized by diaphyseal dysplasia of long bones, bone marrow fibrosis, and steroid-responsive anemia. Patients with this disease have a mutation in the thromboxane-AS1 (TBXAS1) gene located on chromosome 7q33.34. They present with short stature, varying grades of myelofibrosis, and, hence cytopenias. Patients with the above presentation were evaluated through clinical presentation, X-ray of long bones, bone marrow examinations, and confirmed by genetic testing. In this article, we present two cases: The first case is a 3-year-old boy who presented with progressive pallor and ecchymotic patches for a year. On investigation, he had bicytopenia and bone marrow fibrosis. His anemia was steroid responsive and was finally diagnosed as GHDD. The second case is a 20-month-old girl who presented with blood in stools, developmental delay, anemia, and increased intensity of long bones on X-ray. Since other investigations were normal, suspicion of GHDD was raised, and a genetic workup was conducted which suggested mutation in TBXAS1 gene, confirming the diagnosis of GHDD. Children with refractory anemia and cortical thickening on skeletogram should always be evaluated for dysplasias. Timely treatment with steroids reduces transfusion requirements and halts bone damage, thus leading to better growth and improved quality of life.

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OBJECTIVES: We explored the value of contrast-enhanced ultrasound (CEUS) in evaluating femoral head (FH) perfusion, guiding interventions and follow-up for infants with developmental dysplasia of the hip (DDH) and septic arthritis of the hip (SAH). The aim was to provide robust evidence for clinical assessment. METHODS: Ten infants, including 7 with DDH and 3 with SAH, were prospectively enrolled, with their bilateral hips alternately scanned during the CEUS exams. Twenty hips were classified into the case group (n = 11) and the control group (n = 9). Pre- and post-interventional studies were performed in DDH infants requiring interventions. FH perfusion was assessed by the perfusion area ratio (PAR) and quadrant location of microbubble-defect regions. RESULTS: In the case group, 25 CEUS studies were conducted, including 11 baseline, 7 follow-up and 7 post-intervention studies. The PAR significantly decreased in the case group (49.79% vs. 100.00%, p < 0.05). The microbubble-defect regions averagely affected 2 quadrants, primarily quadrat No. 3 (30%) and No. 4 (32%). Seven hip abduction angle adjustments were made based on pre-interventional studies, resulting in a significant increase in PAR in post-interventional studies (37.63% vs. 60.24%, p < 0.05). PAR increased in follow-up studies compared to baseline values (45.61% vs. 76.07%, p < 0.05). The inter- and intra-observer reproducibility of PAR measurements were excellent (intraclass correlation coefficient, both 0.97). CONCLUSION: CEUS proves to be a promising technique for quantitatively detecting FH perfusion in DDH and SAH infants with high reproducibility. It is valuable for baseline, intra-intervention and follow-up studies, aiming in clinical conditions and therapeutic effect evaluation.