Types Of Abnormalities Research Articles

Comprehensive analysis of chromosome abnormalities by chromosome conformation based karyotyping (C-MoKa) in patients with conception failure and pregnancy loss.

Chromosome abnormalities are a leading cause of conception failure and pregnancy loss. While traditional cytogenetics technologies like karyotyping have been helpful in identifying structural variations (SVs), they face challenges in detecting complex rearrangements and cryptic structures. In this study, we developed a new method called chromosome conformation based karyotyping (C-MoKa) to comprehensively detect different types of chromosomal abnormalities in patients with conception failure and pregnancy loss. A total of 70 clinical samples exhibiting known results of SVs, mosaic aneuploidies, copy number variations （CNVs） and uniparental disomy (UPD) were included in our cohort and underwent C-MoKa analysis. The results obtained from different techniques, including karyotyping, CNV-seq, and CMA were compared and analyzed. Distinct chromosomal conformation patterns of various variations were observed and analyzed in clinical samples. Our C-MoKa method not only validated all the findings of karyotyping, CNV-seq and CMA, but also provided more detailed results. It demonstrated superior fragment resolution (<500Kb) and more precise breakpoints (>100kb). Moreover, C-MoKa showed higher sensitivity in decoding intricate rearrangements in a single test. Our results highlight the potential utility of C-MoKa in precisely unraveling SVs, mosaic aneuploidies, CNVs, and UPD in clinical settings, which can significantly impact further clinical decision-making.

An Actively Homing Insertion Element in a Phage Methylase Contains a Hidden HNH Endonuclease

Background/Objectives: The ShiLan domain was previously identified as an insertion sequence in a phage DNA methylase gene that exhibited similar evolutionary patterns to that of an active intein or self-splicing intron but could not be identified as either. It produces no internal stop codons when read in frame with its host methylase gene, leading to the thought that it may not be an intron and rather be an abnormal type of intein. However, the sequence has no detectable self-splicing domains, which are essential for intein persistence, as preventing an intein from successfully splicing is often detrimental to proper host protein function. Methods: The analysis of alternate open reading frames for the full nucleotide sequence of this insertion element revealed the insertion to be an out-of-frame histidine-asparagine-histidine (HNH) endonuclease. A GTG start codon is located 18 bp into the insertion, and a TAA stop codon within the last four bases of the insertion (TAAC). When this frame is read, an HNH endonuclease is revealed. In-depth computational analysis could not retrieve support for this element being any known type of self-splicing element, neither intein nor intron. When read in-frame with the methylase gene, this insertion is predicted to take on a looping structure that may be able to avoid interference with the DNA methylase activity. We performed searches for sequences similar in nature to the inserted out-of-frame HNH and found several in other phages and prokaryotes. We present our survey of these out-of-frame endonuclease insertion elements as well as some speculation on how these endonucleases are getting translated to facilitate their homing activity. Conclusions: These findings expand our understanding of the possible arrangements for and prevalence of unorthodox mobile genetic elements and overlapping open reading frames in phages.

Predictive factors of fibrotic interstitial lung abnormality on high-resolution computed tomography scans: a prospective observational study

BackgroundFibrotic types of interstitial lung abnormalities seen on high-resolution computed tomography scans, characterised by traction bronchiolectasis/bronchiectasis with or without honeycombing, are predictors of progression and poor prognostic factors of interstitial lung abnormalities. There are no reports on the clinical characteristics of fibrotic interstitial lung abnormalities on high-resolution computed tomography scans. Therefore, we aimed to examine these clinical characteristics and clarify the predictive factors of fibrotic interstitial lung abnormalities on high-resolution computed tomography scans.MethodsClinical and paraclinical data of 164 patients enrolled in the initial year of a multicentre prospective observational study (Kumamoto interstitial lung abnormalities study in Japan) involving over 62,000 examinees during routine health examinations were analysed. Clinical laboratory evaluations are expressed as medians and interquartile ranges for each evaluation time point, and boxplots were created for graphical representation. The percentages of abnormal clinical laboratory results were compared between the groups using chi-square or Fisher’s exact tests. Univariate or multivariate logistic regression analyses were performed to analyse the relationship between fibrotic interstitial lung abnormalities and other clinical factors.ResultsFibrotic interstitial lung abnormalities were observed on high-resolution computed tomography scans in 135 (82%) patients at the time of diagnosis. Multivariate analysis showed that older age (Odds ratio, 1.06; 95% confidence interval, 1.01–1.12; p = 0.021), auscultatory fine crackles (Odds ratio, 3.39; 95% confidence interval, 1.33–8.65; p < 0.01), and elevated serum surfactant protein-D (Odds ratio, 2.68; 95% confidence interval, 1.02–8.64; p = 0.045) were independent predictive factors of fibrotic interstitial lung abnormalities. The predicted area under the curve of the fibrotic interstitial lung abnormalities based on these three factors was 0.77 (95% confidence interval, 0.68–0.86). The proportion of undecided diagnoses in the fibrotic interstitial lung abnormalities group (14%) was significantly lower than that in the non-fibrotic interstitial lung abnormalities group (41%) (p = 0.0027).ConclusionsFine crackles on auscultation and elevated serum surfactant protein-D levels are predictors of fibrotic interstitial lung abnormalities in older patients with interstitial lung abnormalities. These findings may assist non-radiological physicians in referring patients to specialists for early intervention in progressive fibrotic interstitial lung diseases.Trial registration number/dateUMIN000045149/2021.12.1.

Interpretation of Viscoelastic Hemostatic Assays in Cardiac Surgery Patients: Importance of Clinical Context.

Rotational thromboelastometry (ROTEM) is widely used for point-of-care coagulation testing to reduce blood transfusions. Accurate interpretation of ROTEM data is crucial and requires substantial training. This study investigates the inter- and intrarater reliability of ROTEM interpretation among experts and compares their interpretations with a ROTEM-guided algorithm. This study was conducted at Amsterdam University Medical Center and included 90 cardiac surgery patients. ROTEM data were collected at 4 surgical stages: before induction, after aortic declamping, postcoagulation correction, and within 2 hours of intensive care unit (ICU) admission. An international panel of 7 cardiovascular anesthesiologists and one intensivist interpreted the data. Interrater reliability was assessed using Fleiss' kappa for binary decisions and the simple matching coefficient (SMC) for multiple-choice questions. Intrarater reliability with the ROTEM-guided algorithm was also evaluated. Three hundred forty-three ROTEM measurements were analyzed. The interrater reliability for binary decisions was substantial to almost perfect, except after declamping (Fleiss' kappa = 0.34). The SMC for determining type of abnormality and interventions ranged from good to excellent across all ROTEM measuring moments (SMC ≥0.75). Intrarater reliability was almost perfect for binary questions (intraclass correlation coefficient [ICC] ≥0.81) and showed excellent agreement for multiple-choice questions. Comparing expert recommendations with the algorithm resulted in an average SMC of 0.70 indicating differences in intervention recommendations, with experts frequently recommending fibrinogen and protamine over the algorithm's suggestions of plasma and PCC. This study demonstrates high inter- and intrarater reliability in ROTEM interpretation among trained professionals in cardiac surgery, with almost perfect agreement on abnormalities and interventions. However, differences between expert evaluations and the ROTEM-guided algorithm underscore the need for advanced clinical decision-making tools. Future efforts should focus on developing personalized, data-driven algorithms without predefined cutoff values to improve accuracy and patient outcomes.

APCAD Part 2: A Novel Method for Detection of Meiotic Aneuploidy in Preimplantation Embryos

Background/Objectives: Preimplantation genetic testing methods to detect aneuploidy (PGT-A) based on genomewide single nucleotide polymorphism (SNP) data were scarce and did not meet our needs. Methods: Hence, we developed a novel method for this purpose. After the raw B-allele frequency (rBAF) values of Single Nucleotide Polymorfisms (SNPs) are obtained from a sample of interest with SNP array, the BAF values for specific categories of SNPs (cBAF) are visualized separately. Results: The analysis of the cBAF, rBAF and Log2R profiles enables to distinguish all common types of chromosomal abnormalities without haplotyping. This was demonstrated by reanalyzing data from 359 embryos which had previously been analyzed with Karyomapping. We identified additional underrepresented maternal haplotypes in five samples that we could not detect with Karyomapping. In addition, we identified all chromosomes with meiotic-origin copy number gains (both parental homolog (BPH)) (n = 70) and all chromosomes with a non-mosaic copy number loss larger than 5 Mb (n = 93) that had been detected with Karyomapping. Conclusions: We conclude that the proposed method can be used to reliably detect meiotic-origin aneuploidy without haplotyping and, hence without the need for a phasing reference.

Risk of adverse pregnancy outcomes after abnormal hysterosalpingography

Objective To investigate the association between an abnormal hysterosalpingogram (HSG) and obstetrical and neonatal outcomes. Design A retrospective cohort study comparing outcomes between women with normal versus abnormal tubal patency and uterine cavity on HSG. Results Among 2181 women included in the study, 494 (22.6%) had an abnormal HSG. Of these, 207 (42%) presented with uterine abnormalities, 336 (68%) with tubal abnormalities and 49 (10%) with both. The study identified 232 clinical pregnancies in the abnormal HSG group and 814 pregnancies in controls. Women with abnormal HSG showed higher rates of preterm labour (PTL) compared to controls (13.6% vs. 7.7%, p < 0.05, n = 1687). Multivariate analysis revealed that any HSG abnormality was associated with an increased risk of PTL (aOR 2.39, 1.04–5.51). When analysing by type of abnormality, uterine abnormalities increased the risk of preeclampsia (aOR 2.86, 1.06–7.7) and low birthweight (aOR 2.31, 1.0–5.35), while tubal abnormalities were specifically associated with increased risk of PTL (aOR 3.87, 1.63–9.19). Conclusion An abnormal HSG study was associated with adverse obstetrical outcomes. Specifically, uterine abnormalities increased the risk of preeclampsia and birthweight below 10th percentile, while tubal abnormalities were associated with a heightened risk of PTL.

Expanded non-invasive prenatal testing offers better detection of fetal copy number variations but not chromosomal aneuploidies.

To evaluate the clinical performance of expanded non-invasive prenatal testing (NIPT-plus) and compare its effectiveness in screening for chromosomal aneuploidies with that of NIPT. Screening results, confirmatory invasive testing results, and follow-up data from pregnant women who underwent either NIPT (6792 cases) or NIPT-Plus (5237 cases) testing at Luohe Central Hospital, China, from January 2019 to June 2023 were collected. The positive predictive value (PPV), sensitivity, specificity, and other indicators for different types of chromosomal abnormalities in NIPT/NIPT-plus screening were calculated. The willingness of pregnant women with various types of abnormalities to undergo confirmatory invasive testing and the proportion of pregnancy terminations were investigated. The average number of unique reads in NIPT-plus samples was 5.26 times greater than that in NIPT samples. There was no significant difference in the PPV or positive rate between NIPT-plus and NIPT for screening chromosomal aneuploidies. Compared with the low-risk group, the high-risk group had a greater PPV; however, in the NIPT-plus group, there was no significant disparity in the PPV between the low-risk and high-risk groups. Compared with rare autosomal aneuploidies (RAAs), pregnant women had a higher rate of confirmatory invasive testing for common trisomies, sex chromosomal abnormalities (SCAs), and copy number variations (CNVs). However, the rate of pregnancy termination for common trisomies, RAAs, and CNVs was higher than that for SCAs. By enhancing sequencing data, NIPT-plus can effectively screen for CNVs as well as chromosomal aneuploidies. However, NIPT-plus does not have an advantage over standard NIPT in screening for chromosomal aneuploidies.

Clinical outcomes of Lateral Tarsal Strip Procedure for the correction of entropion and ectropion

Purpose: Evaluating the clinical outcomes of Lateral Tarsal Strip Procedure for the correction of entropion and ectropion. Study Design: Interventional case series. Place and Duration of Study: Mayo Hospital Lahore, from January 2018 to March 2023. Methods: Lateral Tarsal Strip Procedure was performed for the correction of Lower lid malposition in 43 patients for entropion or ectropion. Complete ocular assessment was done including palpebral fissure height, amount of inward/outward turning of lids, abnormalities of lashes and pre-existing tear film abnormality. Patients with previous eye surgery were excluded. We collected data regarding surgical outcomes and satisfaction of patients. Results: Forty-three patients were included in this study. There were 30 men and 13 women in the age range of 59 to 82 years (mean 72.2±4.9 years). There were 28 right and 15 left lower eyelids. Surgical success with anatomical correction of Involutional ectropion was achieved in all patients. Distribution of type of lid abnormality is shown in Table 1. There were no perioperative or postoperative complications. After initial 100% results, only two out of forty-three eyelids (4.6%) had recurrence of involutional ectropion after 4 and 6 months. Conclusion: LateralTarsalStrip is a simple and effective approach in achieving correction for entropion/ectropion.

The molecular mechanisms of cardiac development and related diseases.

Cardiac development is a complex and intricate process involving numerous molecular signals and pathways. Researchers have explored cardiac development through a long journey, starting with early studies observing morphological changes and progressing to the exploration of molecular mechanisms using various molecular biology methods. Currently, advancements in stem cell technology and sequencing technology, such as the generation of human pluripotent stem cells and cardiac organoids, multi-omics sequencing, and artificial intelligence (AI) technology, have enabled researchers to understand the molecular mechanisms of cardiac development better. Many molecular signals regulate cardiac development, including various growth and transcription factors and signaling pathways, such as WNT signaling, retinoic acid signaling, and Notch signaling pathways. In addition, cilia, the extracellular matrix, epigenetic modifications, and hypoxia conditions also play important roles in cardiac development. These factors play crucial roles at one or even multiple stages of cardiac development. Recent studies have also identified roles for autophagy, metabolic transition, and macrophages in cardiac development. Deficiencies or abnormal expression of these factors can lead to various types of cardiac development abnormalities. Nowadays, congenital heart disease (CHD) management requires lifelong care, primarily involving surgical and pharmacological treatments. Advances in surgical techniques and the development of clinical genetic testing have enabled earlier diagnosis and treatment of CHD. However, these technologies still have significant limitations. The development of new technologies, such as sequencing and AI technologies, will help us better understand the molecular mechanisms of cardiac development and promote earlier prevention and treatment of CHD in the future.

Identification of Abnormal Bidding Behavior Types of Power Suppliers in Electricity Market Based on Multiple Isolated Forests

Identification of Abnormal Bidding Behavior Types of Power Suppliers in Electricity Market Based on Multiple Isolated Forests

Conventional Cytogenetic Analysis of Solid Tumor Abnormalities: A 25-Year Review of Proficiency Test Results from the College of American Pathologists/American College of Medical Genetics and Genomics Cytogenetics Committee.

Background: The joint College of American Pathologists/American College of Medical Genetics and Genomics Cytogenetics Committee works to ensure the competency and proficiency of clinical cytogenetic testing laboratories through proficiency testing (PT) programs for various clinical tests offered by such laboratories, including the evaluation of cytogenetic abnormalities in solid tumors. Methods: Review and analyze 25 years (1999-2023) of solid tumor chromosome analysis PT results, utilizing G-banded karyograms. A retrospective review of results from 1999 to 2023 was performed, identifying the challenges addressing solid tumors. The chromosomal abnormalities and overall performance were evaluated. Results: A total of 21 solid tumor challenges were administered during the period 1999-2018. No solid tumor challenges were administered during the period 2019-2023. Challenges consisted of metaphase images and accompanying clinical history for the evaluation of numerical and/or structural abnormalities. All 21 cases reached 80% grading consensus for abnormality recognition. However, five cases (24%) failed to reach consensus for nomenclature reporting by participating laboratories. These cases illustrate errors in reporting chromosomal abnormalities, including whole-arm translocations and those involving sex chromosomes. In addition, they highlight the challenges with differentiation of terminal and interstitial deletions, difficulties in identifying correct breakpoints, and omission of brackets in neoplastic cases. Conclusions: This comprehensive 25-year review demonstrates the exceptional proficiency of cytogenetic laboratories in accurately identifying chromosome abnormalities in solid tumors, while also highlighting the challenges of reporting specific types of chromosomal abnormalities.

PENILE ABNORMALITIES IN WILD-BORN CAPTIVE CHEETAHS (ACINONYX JUBATUS).

Penile abnormalities in cheetahs (Acinonyx jubatus) are rare but can present significant challenges to both captive and wild populations. This is the first report of penile abnormalities in cheetahs, and results from the screening of 549 male individuals from 1994 to 2023. Four cases of penile abnormalities were identified and included three types of penile abnormalities: one case of frenulum persistence, one case of paraphimosis, and two cases of penile-preputial adherence. Their clinical presentation and treatment are described here. The diagnostic workup for each case involved a combination of physical examinations and anesthesia-assisted evaluations. Treatment strategies varied depending on the specific penile abnormality, but all included surgical intervention and supportive care. Through these case reports, it becomes evident that penile abnormalities in cheetahs, while rare, can manifest in different forms. Underlying causes are as yet unknown for the cheetah. Breeding decisions need to be tailored to individual cases and include consideration of the overall genetic value of the individual to the population relative to the risk of the abnormality potentially including an inheritable component. Penile abnormalities have the potential to affect the reproductive health and overall well-being of affected animals; hence early detection, accurate diagnosis, and timely interventions are crucial for successful management and treatment. These multiple case reports emphasize the need for further research on penile abnormalities in cheetahs to enhance our understanding of the underlying causes, risk factors, and potential long-term implications.

Beyond the hernia in groin ultrasound.

Groin discomfort is one of the most common presenting complaints in health care and often requires ultrasound to detect hernias. However, such singular emphasis leads to over diagnosing hernia and other significant aetiologies in and around the groin are overlooked. The article elaborates on the key areas a sonographer needs to focus on and presents a range of conditions responsible for groin pain other than hernia. In addition to evaluating for hernia, a groin ultrasound should evaluate structures in the inguinal canal, the adductor muscles and symphyseal region, the superficial inguinal lymph nodes, the femoral neurovascular bundle, the hip joint with periarticular regions and the structures in the right iliac fossa. Sonographers must have a methodical approach, a good knowledge of normal anatomy and pathologies and a comprehensive understanding of the various types of groin abnormalities for a thorough examination.

Left Ventricular False Tendons: A Morphological Study by Echocardiography.

This is a prospective study aimed to investigate the morphology of left ventricular false tendons (LVFTs) using echocardiography and explore its associations with age, sex, body mass index (BMI), congenital heart structural abnormalities, and premature ventricular contractions (PVCs). We analyzed data from 889 individuals who underwent consecutive echocardiograms at our ultrasound department between December 2023 and February 2024. Routine echocardiograms were performed to detect congenital structural abnormalities, with a focus on identifying LVFT. We examined the prevalence, number, and distribution of LVFTs, as well as their correlation with age, sex, BMI, and congenital heart structural abnormalities. LVFTs were detected in 460 of 889 cases (51.74%), totaling 672 LVFTs. LVFT prevalence significantly differed not only between sexes but also between ages. LVFT prevalence was higher in individuals with lower BMI. There was no significant difference in congenital heart structural abnormalities between the groups, but the composition of distinct types of structural abnormalities differed between the groups. The incidence of PVCs in the LVFT-positive group was significantly higher than in the LVFT-negative group. The prevalence of LVFTs is notably higher in males than females and tends to decrease with advancing age and increasing BMI. LVFTs display diverse morphological features and may interact synergistically with certain congenital heart structural abnormalities. LVFTs can easily lead to PVCs in healthy people, but the risk of leading to malignant PVCs does not seem to be high. Correctly recognizing the morphological characteristics of LVFTs helps to distinguish similar ultrasonic images of different diseases, thus avoiding missed diagnoses and misdiagnoses in ultrasound work and clinical practice.

Pressure Pain Sensitivity is Independent of Structural Pathology in Patients with Subacromial Pain Syndrome: A Cross-Sectional Analysis.

To compare localized (primary) and widespread (secondary) hyperalgesia using pressure pain threshold (PPT) of patients with normal imaging findings, rotator cuff tear, or other pathologies. This was a cross-sectional design with data collected at a single time point. This study was performed at two large, urban, academic medical centers. Participants included had chronic subacromial pain syndrome for three months or longer. Each participant was categorized into one of three imaging groups: normal imaging, rotator cuff tear, or other structural pathology. Primary hyperalgesia was assessed with PPT at the midsection of the painful shoulder's lateral deltoid. Secondary hyperalgesia was assessed with PPT at the contralateral tibialis anterior muscle (TA). An ANOVA and ANCOVA was performed for each objective. ANCOVA covariates included age, sex, education level, and pain duration. The 103 participants included 55 males, had a median age of 55 years, median pain duration of 14.0 months, and a median composite Shoulder Pain and Disability Index (SPADI) score of 43.1%. The ANCOVA for primary hyperalgesia showed no significant difference in square-root adjusted deltoid PPT between imaging groups (F = 1.04, p = 0.3589). The ANCOVA for secondary hyperalgesia showed no significant difference in log-adjusted TA PPT between imaging groups (F = 0.24, p = 0.7900). No significant difference was observed in the analysis of ipsilateral deltoid or contralateral TA PPT between patients with differing structural shoulder pathologies. These findings suggest that the three types of structural shoulder abnormalities we examined are not significantly associated with differences in one measure of hyperalgesia.

IDENTIFICATION THE ABNORMALITIES OF FLOWER AND FRUIT IN OIL PALM (Elaeis guineensis Jacq.) FROM TISSUE CULTURE CLONE AND D×P SUNGAI PANCUR VARIETY

Since the last few decades, plant propagation by tissue culture techniques have been developed for oil palm crops, but it often happens somaclonal variation that causes abnormal phenomena in oil palm flowers and fruits. Therefore, the purposes of this research were to identify the morphological characters of abnormal flowers and fruits, and to determine the types of abnormality of oil palm fruit derived from tissue culture cloned compared to D×P Sungai Pancur hybrid variety. This research was conducted at the educational field of Indonesian Oil Palm Research Institute (IOPRI) located in Sungai Dareh, Pulau Punjung Sub-district, Dharmasraya Regency, West Sumatra. The sampling method was purposive sampling and the observed data were presented descriptively. The results of this study indicated that abnormalities in oil palm fruit have been detected from the time of flower formation with the characteristic that when the flower blooms it forms more than seven carpels. The types of oil palm fruit abnormalities found at the study site were thin coat abnormalities, thick coat abnormalities, squirrel tail, mantle sissy and squirrel tail mantle sissy. In cases of mild abnormality, the oil palm fruit still has seeds and flesh, whereas in severe cases, the fruit only has a thin flesh and was completely seedless.

Longitudinal ultra-sensitive mutation burden sequencing for precise minimal residual disease assessment in AML

Relapse is one of the major challenges in clinical treatment of acute myeloid leukemia (AML). Though minimal residual disease (MRD) monitoring plays a crucial role in quantitative assessment of the disease, molecular MRD analysis has been mainly limited to patients diagnosed with gene fusions and NPM1 mutations. Here, we report a longitudinal ultra-sensitive mutation burden (UMB) monitoring strategy for accurate MRD analysis in AML patients regardless of genetic abnormality types. Using a Quantitative Blocker Displacement Amplification (QBDA) sequencing panel with limit of detection below 0.01% variant allele frequency (VAF), a hazard ratio of 14.8 (p < 0.001) is observed in cumulative incidence of relapse analysis of 20 patients with ≥ 2 samples during complete remission (CR). The ROC area under curve (AUC) is 0.98 when predicting relapse within 30 weeks of CR timepoint 2 (N = 20). Furthermore, we demonstrate quantitating VAF below 0.01% is essential for accurate relapse prediction.

Relationship Between p53 and Recurrence in Endometrial Cancer

Objective: Tumor protein 53 (p53), were included in the new FIGO 2023 staging system. Tumor protein 53 (p53) was incorporated into the new FIGO 2023 staging system. This study aimed to assess recurrence rates, overall survival (OS), and progression-free survival (PFS) in endometrial cancer patients with p53 mutations treated in the radiation oncology clinic. Material and Method: 260 patients were included in the study. The patients were divided into 2 groups according to the p53 mutation: p53 abnormal (p53 mutant) and p53 wild type. The Kaplan-Meier method was used to evaluate OS and PFS. Survival rates; were compared in terms of p53 mutations. Patients who underwent surgery for EC between January 1, 2008, and January 1, 2023, were included if their postoperative pathology reports evaluated p53 mutations, and they were referred to the radiation oncology clinic. Results: In our study; OS of EC was 84.2%, PFS was 88.8%. Total of 29 patients (%11.2) with recurrence were detected in the follow-up of the patients. The OS of p53 wild type patients was 88.6% and p53 mutant patients was 61% (p

Posterior vitreous membrane findings on OCT related to collagen type IV abnormalities.

The pathological mechanisms of abnormal collagen type IV predisposing to macular hole formation in Alport syndrome are hypothesized to be related to defective Bruch's membrane leading to ruptured intraretinal cysts. However, abnormal collagen type IV may also predispose to macular hole formation due to vitreous cortex abnormalities. An observational case series of Optical Coherence Tomography (OCT) findings in three patients. In two patients diagnosed with Alport syndrome and in one patient with a possibly pathogenic genetic variant in COL4A3 we observed a remarkable posterior vitreous cortex with a vitreoschisis-like appearance on OCT. Two of these patients developed a rhegmatogenous retinal detachment, of which one was caused by a giant retinal tear, and one patient developed a macular hole. During surgery, a firmly adherent vitreous cortex was observed centrally in the left eye and in the midperiphery in the right eye in one patient with a macular hole and giant retinal tear, respectively. These new vitreous cortex findings in patients with Alport syndrome are possibly related to pathogenic genetic variants affecting type IV collagen. Abnormal type IV collagen may cause pathological vitreoretinal traction, potentially leading to an increased risk of macular holes and rhegmatogenous retinal detachments.

Response of children with Turner syndrome with different types of karyotype abnormalities to growth hormone treatment.

Short stature is the main characteristic of Turner syndrome (TS) patients and growth hormone (GH) therapy has been essential for achieving the final adult height (Ht). In the present study, the response of TS patients with different types of karyotype abnormalities to GH therapy was analyzed. The clinical parameters of 194 TS patients registered in the LG Growth Study were retrospectively reviewed. Data for 4 groups of subjects were obtained as follows: monosomy X (n=56); X structural abnormality (n=26); X mosaicism without structural abnormality (n=41); X mosaicism with structural abnormality (n=71). Clinical characteristics and growth response parameters were compared over 3 years of GH treatment. The baseline Ht standard deviation score (SDS) of all patients was -2.85±0.86. The baseline Ht SDS, body mass index SDS, and chronological age (years)-bone age (years) were significantly different based on chromosomal abnormalities. The growth velocity (GV; cm/yr) in the first year was the highest and significantly different among the groups. The GV in the second year also showed an increase in the X mosaicism without structural abnormality group compared with the monosomy X group. The change in Ht SDS (ΔHt SDS) over 3 years was not statistically different between karyotypes. The response to 3 years of GH therapy did not differ based on the karyotype of TS patients although the initial Ht SDS was the lowest in the monosomy X group.