ABSTRACT
For most shoulder surgeons, addressing massive rotator cuff tears that have retracted ends poses a significant challenge. This study introduces a technique, termed the "sandwich augmentation technique," which incorporates the long head of the biceps tendon (LHBT) into a single-row rotator cuff repair. The procedure, performed arthroscopically with the patient in the lateral decubitus position, involves attaching the LHBT and rotator cuff tissues together to the greater tuberosity. This effectively sandwiches them within the rotator cuff footprint. The goal of this technique is to enhance the thickness of the fully interposed cuff margin, thereby providing better support for the repair. The sandwich augmentation technique, which integrates the biceps into the rotator cuff repair, has demonstrated positive clinical outcomes and moderate anatomical results. It also prevents superior migration of the humeral head in cases of large or massive rotator cuff tears. Further research is required to assess the long-term effectiveness of this procedure.
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Background and objectives: Most Koreans obtain medical information from the Internet. Despite the vast amount of information available, there is a possibility that patients acquire false information or are dissatisfied. Chronic ankle instability (CAI) is one of the most common sports injuries that develops after an ankle sprain. Although the information available on the Internet related to CAI has been evaluated in other countries, such studies have not been conducted in Korea. Materials and Methods: The key term "chronic ankle instability" was searched on the three most commonly used search engines in Korea. The top 150 website results were classified into university hospital, private hospital, commercial, non-commercial, and unspecified websites by a single investigator. The websites were rated according to the quality of information using the DISCERN instrument, accuracy score, and exhaustivity score. Results: Of the 150 websites, 96 were included in the analysis. University and private hospital websites had significantly higher DISCERN, accuracy, and exhaustivity scores compared to the other websites. Conclusions: Accurate medical information is essential for improving patient satisfaction and treatment outcomes. The quality of websites should be improved to provide high-quality medical information to patients, which can be facilitated by doctors.
Subject(s)
Consumer Health Information , Humans , Ankle , Search Engine , Internet , Republic of KoreaABSTRACT
ABSTRACT: Idiopathic flatfoot is common in infants and children, and patients with this condition are frequently referred to pediatric orthopedic clinics. Flatfoot is a physiologic process, and that the arch of the foot elevates spontaneously in most children during the first decade of life. To achieve a consensus as the rate of spontaneous improvement of flatfoot, the present study aimed to estimate the rate of spontaneous improvement of flatfoot and to analyze correlating factors.We reviewed the records of patients examined between May 2013 and May 2019 so as to identify those factors associated with idiopathic flatfoot below 12âyears of age. We included patients with who had been followed for >6âmonths, and those for whom ≥2 (anteroposterior and lateral) weight-bearing bilateral radiographs of the foot had been obtained. The progression rates of the anteroposterior (AP) talo-first metatarsal angle, talonavicular coverage angle, lateral talo-first metatarsal angle, and calcaneal pitch angle were adjusted by multiple factors using a linear mixed model, with sex, body mass index, and Achilles tendon contracture as the fixed effects and age and each subject as the random effects.We found that 4 of the radiographic measurements improved as patients grew older. The AP talo-first metatarsal angle, talonavicular coverage angle, and the lateral talo-first metatarsal angle decreased, while the calcaneal pitch angle increased. The AP talo-first metatarsal angle (Pâ<â.001), talonavicular coverage angle (Pâ<â.001), and lateral talo-first metatarsal angle (Pâ<â.001) improved significantly; however, the calcaneal pitch angle (Pâ=â.367) did not show any significant difference. In general, the flatfeet showed an improving trend; after analyzing the factors, no sex difference was observed (Pâ=â.117), while body mass index (Pâ<â.001) and Achilles tendon contracture (Pâ<â.001) showed a negative correlation.The study demonstrated that children's flatfeet spontaneously improved at the age of 12âyears. It would be more beneficial if the clinician shows the predicted appearance of the foot at the completion of growth by calculating the radiographic indices and identifying the correlating factors in addition to explaining that flatfoot may gradually improve. This will prevent unnecessary medical expenses and the psychological adverse effects to the children caused by unnecessary treatment.
Subject(s)
Flatfoot/diagnosis , Metatarsal Bones/diagnostic imaging , Radiography/methods , Recovery of Function/physiology , Weight-Bearing/physiology , Child , Disease Progression , Female , Flatfoot/physiopathology , Follow-Up Studies , Humans , Male , Retrospective StudiesABSTRACT
PURPOSE: Our purpose in the current meta-analysis was to compare the functional outcomes in patients who have received single-radius (SR) or multi-radius (MR) femoral components in randomized controlled trials (RCTs) for primary total knee arthroplasty (TKA). The hypothesis was that there would be no statistically significant difference between two groups in terms of functional outcomes. MATERIALS AND METHODS: We searched the international electronic databases PubMed, Embase, and the Cochrane Central Register of Controlled Trials up to February 2020 for RCTs that compared functional outcomes of SR and MR femoral component designs after primary TKA. We performed a meta-analysis of nine RCTs using the Knee Society Score for the knee (KSS-knee), KSS-function, Knee Injury and Osteoarthritis Outcome Score (KOOS), Oxford Knee Score (OKS), degree of knee flexion, extension, and complications, including postoperative infection and revision surgery. RESULTS: The meta-analysis revealed no statistically significant differences in all the analyzed variables, including KSS-knee, KSS-function, KOOS, OKS, knee flexion, and knee extension. For postoperative complications, no statistically significant differences were detected for femoral component designs in postoperative infection or incidence of revision surgery between the two groups. CONCLUSIONS: The current meta-analysis of RCTs did not show any statistically significant differences between SR and MR femoral component designs in terms of postoperative functional outcomes. Evaluated outcomes included functional outcome scores, degree of knee flexion, extension, and complications. However, because of the limited clinical evidence of this study owing to the heterogeneity between the included RCTs, a careful approach should be made in order not to arrive at definite conclusions.
ABSTRACT
Melanosomes are specialized membrane-bound organelles that are involved in melanin synthesis. Unlike melanosome biogenesis, the melanosome degradation pathway is poorly understood. Among the cellular processes, autophagy controls degradation of intracellular components by cooperating with lysosomes. In this study, we showed that ursolic acid inhibits skin pigmentation by promoting melanosomal autophagy, or melanophagy, in melanocytes. We found that B16F1 cells treated with ursolic acid suppressed alpha-melanocyte stimulating hormone (α-MSH) stimulated increase in melanin content and activated autophagy. In addition, we found that treatment with ursolic acid promotes melanosomal degradation, and bafilomycin A1 inhibition of autophagosome-lysosome fusion blocked the removal of melanosomes in α-MSH-stimulated B16F1 cells. Furthermore, depletion of the autophagy-related gene 5 (ATG5) resulted in significant suppression of ursolic acid-mediated anti-pigmentation activity and autophagy in α-MSH-treated B16F1 cells. Taken together, our results suggest that ursolic acid inhibits skin pigmentation by increasing melanosomal degradation in melanocytes.
Subject(s)
Autophagy/drug effects , Melanoma, Experimental/pathology , Melanosomes/pathology , Skin Pigmentation/drug effects , Triterpenes/pharmacology , Animals , Cell Line, Tumor , Melanins/biosynthesis , Melanosomes/drug effects , Mice , Triterpenes/chemistry , alpha-MSH/pharmacology , Ursolic AcidABSTRACT
PURPOSE: To analyze differences in clinical outcomes of arthroscopic anterior cruciate ligament reconstruction between remnant-preserving and non-preserving methods. METHODS: International electronical databases PubMed, Embase, and the Cochrane central database from January 1966 to December 2017 were searched for randomized controlled trials (RCTs) and observational studies that compared differences of clinical outcomes of ACL reconstruction with and without remnant preservation. A meta-analysis of these studies was performed to compare clinical outcomes. Subgroup analyses were conducted to evaluate the role of methodological quality in primary meta-analysis estimates. RESULTS: Five RCTs and six observational studies were included in this meta-analysis and subgroup analysis. The remnant-preserving method in arthroscopic ACL reconstruction showed a statistically significant difference compared to the non-preserving method regarding arthrometric evaluation (side-to-side difference). Lachman test, Lysholm scores, and IKDC subjective scores showed statistically minor difference in meta-analysis, but showed no significant difference in subgroup analysis. Remained parameters including pivot shift test, IKDC grades, incidence of cyclops lesion showed no statistically differences in meta-analysis or subgroup analysis. CONCLUSIONS: This meta-analysis with subgroup analysis showed that arthroscopic remnant-preserving ACL reconstruction provided statistically significant but limited clinical relevance in terms of arthrometric evaluation. Results of Lachman test, Lysholm scores, and IKDC subjective scores demonstrated statistically minor differences.
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PURPOSE: Medial meniscus posterior root tear (MMPRT) should be repaired to the correct position as possible to maintain hoop tension of the meniscus. In this study, we propose a comparison of the outcome between the medial tunnel and the lateral tunnel in the pullout suture technique using the tibial tunnel for anatomical repair of posterior root tear of medial meniscus. METHODS: From April 2010, of patients who underwent pullout suture, 51 cases (24 medial tunnel group (MTG) and 27 lateral tunnel group (LTG)) were able to follow-up with second look arthroscopy. Original Coronal Ratio of Root Attachment (CRORA) was defined as the ratio of the distance from the medial edge of the tibial plateau to the root attach site divided by the entire tibial medial-lateral width on preoperative computed tomography. Error between postoperative CRORA and original CRORA was calculated. We compared this error, clinical outcome, and arthroscopic finding between MTG and LTG. RESULTS: The mean error ratio of postoperative CRORA divided by original CRORA was 0.86 ± 0.11 in MTG, which was significantly (p = 0.001) lower than that (1.02 ± 0.06) in LTG. The mean value of the root attach point in the MTG with a post/original CRORA value of 0.86 ± 0.11 means statistically significant medialization after the operation. There was no statistically significant difference in changes of International Knee Documentation Committee (IKDC) and Lysholom score between MTG and LTG. The difference between the two groups of arthritis progression was not statistically significant. CONCLUSION: In patients with MMPRT, CRORA may provide a basis for coronal assessment of root repair position before and after surgery, and lateral tibial tunnel technique can help anatomical repair by reducing technical error due to guide pin slip medially compared to medial tibial tunnel technique.
Subject(s)
Arthroscopy/methods , Knee Joint/surgery , Menisci, Tibial/surgery , Tibial Meniscus Injuries/surgery , Tomography, X-Ray Computed/methods , Adult , Aged , Female , Humans , Knee Joint/diagnostic imaging , Male , Menisci, Tibial/diagnostic imaging , Middle Aged , Postoperative Period , Rupture , Suture Techniques , Sutures , Tibial Meniscus Injuries/diagnosisABSTRACT
RATIONALE: Adequate stability of traumatic anterior shoulder dislocation without any obvious damage to the anterior capsulolabral structure in elderly patients can be achieved by treating the associated rotator cuff injuries. However, in case of recurrent shoulder dislocation despite rotator cuff repair, the repaired rotator cuff may be weakened or reruptured and is often impossible to repair again. Therefore, the role of the rotator cuff as a shoulder stabilizer cannot be expected. Even if the anterior joint capsule is left, it is too weak to imbrication either. An additional anterior structural reconstruction that can replace the rotator cuff and capsule is needed to prevent recurrence. PATIENT CONCERNS: A 59-year-old man visited our clinic because of traumatic anterior dislocation of the right shoulder combined with anterior-superior rotator cuff tear. Because there was no obvious anterior capsulolabral injury, he underwent arthroscopic rotator cuff repair only. Postoperative rehabilitation was maintained; however, anterior shoulder dislocation recurred 10 months postoperatively. DIAGNOSIS: Physical examination revealed anterior instability in abduction and external rotation of the shoulder joint. Magnetic resonance imaging suggested retear of the repaired anterior-superior rotator cuff and Hill-Sachs lesion of the humeral head. INTERVENTIONS: Diagnostic arthroscopy was performed. The reruptured rotator cuff seemed impossible to repair; thus, arthroscopic remplissage procedure was performed for engaging the Hill-Sachs lesion. In addition, open pectoralis major tendon transfer for anterior stabilization was performed via the deltopectoral approach. OUTCOMES: At the 12-month follow-up, the patient showed good clinical outcomes, including internal rotation of the shoulder joint without recurrent instability. LESSON: Recurrent anterior shoulder dislocation after primary surgery in the elderly may be a challenging situation for surgeons. In patients with irreparable anterior rotator cuff tear and for whom reconstruction of the anterior glenoid is not indicated, pectoralis major tendon transfer is a good treatment option for satisfactory clinical outcomes without recurrence.
Subject(s)
Shoulder Dislocation/surgery , Shoulder Joint/surgery , Tendon Transfer/methods , Arthroscopy , Humans , Male , Middle Aged , Rotator Cuff/surgeryABSTRACT
The present study reports our experience of treating four cases of symptomatic discoid medial meniscus, three of which were bilateral. We performed partial meniscectomy with a four-portal technique using a knife leaving a 6 mm peripheral margin after confirmation of magnetic resonance imaging findings. Clinical results were assessed at the end of 2-year follow-up using the Knee Injury and Osteoarthritis Outcome Score and a visual analogue scale. We obtained satisfactory clinical results without recurrence of the symptoms in all cases.
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The transobturator tape (TOT) method is the recent minimally invasive midurethral sling surgery. The TOT method was invented to reduce complication rate of surgical technique for female stress urinary incontinence. Pelvic bleeding following TOT procedure, although extremely rare, could be occurred. We presented three cases which treat pelvic arterial bleeding after midurethral sling (TOT and tension-free vaginal tape Secur) surgery via pelvic artery embolization. Therefore we report our cases with brief review of the literature.
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In pediatric patients, proximal humeral physeal fractures are uncommon injuries compared with distal physeal fractures. Usually, the growth plate is the most vulnerable site of fracture in the proximal humerus. Proximal humeral physeal fractures accompanying posterior shoulder dislocation are very rare. There are few recent reports on the combination of glenohumeral dislocation and proximal humerus fractures. Here, we describe a case of posterior shoulder dislocation with ipsilateral proximal humerus type 2 physeal fracture in a 9-year-old boy. We treated the patient by closed reduction and percutaneous pinning under general anesthesia.
Subject(s)
Shoulder Dislocation/diagnostic imaging , Shoulder Dislocation/surgery , Shoulder Fractures/diagnostic imaging , Shoulder Fractures/surgery , Child , Humans , Male , Radiography , Range of Motion, Articular/physiology , Shoulder Dislocation/complications , Shoulder Fractures/complicationsABSTRACT
OBJECTIVE: To investigate the impact of fibroids on the blood flow of the uterine and subendometrial arteries and in vitro fertilization (IVF) outcomes. METHODS: In this study, we analyzed 86 IVF/intracytoplasmic sperm injection (ICSI) cycles in which a gonadotropin-releasing hormone antagonist protocol was used for controlled ovarian stimulation between January 2008 and March 2009. The subjects comprised 86 infertile women with (fibroid group, n=43) or without (control group, n=43) uterine fibroids. RESULTS: Patient characteristics were similar between the fibroid and control groups. The IVF/ICSI outcomes in patients with fibroids were similar to those of patients in the control group. The resistance index (RI) and pulsatile index (PI) of the uterine and subendometrial arteries on the day of embryo transfer were also comparable between the two groups. IVF outcomes and uterine hemodynamics in patients with multiple (≥2) fibroids were similar to those of patients with a single fibroid. However, clinical pregnancy and implantation rates were significantly lower in patients with fibroids who experienced uterine cavity distortion than in patients with fibroids who had a normal uterine cavity (both p<0.05). The RI and PI of the subendometrial artery were significantly higher on the day of embryo transfer in patients with fibroids who experienced uterine cavity distortion than in patients with fibroids who had a normal uterine cavity (both p<0.05). CONCLUSION: Fibroids which distorting the uterine cavity might impair the subendometrial artery blood flow clinical pregnancy rate and embryo implantation rate in infertile patients undergoing IVF. Otherwise, IVF outcomes were not influenced by the presence of uterine fibroids.
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PURPOSE: To report the optical coherence tomography (OCT) findings of the firmly attached foveal area and to investigate the functional results and predictive values in correlation to the degree of firmness of the foveal adherence of the epiretinal membrane (ERM). METHODS: We retrospectively reviewed the medical records regarding 167 eyes of 166 patients who underwent vitrectomy for the removal of the ERM between January 2009 and December 2012. We evaluated the degree of foveal attachment in all the patients based on the surgical video and reviewed the OCT images. The main and secondary outcome measures were OCT findings including the presence and the size of a highly reflective lesion, visual acuity, and the mean duration of the ERM before surgery. RESULTS: An abnormal highly reflective lesion was observed beneath the ERM in the foveal area. We termed this type of finding a "hyperreflective foveal lesion" (HFL). This HFL was present in 22 of 23 eyes (95.7%) with a firm foveal attachment (FFA) and in 2 of 144 eyes (1.4%) without an FFA (P < 0.001). The HFL showed a sensitivity of 96%, specificity of 99%, positive predictive value of 92%, and negative predictive value of 99%, as a predictor of FFA. The mean duration of the ERM before surgery was significantly longer in the group with an FFA than in the group without an FFA (P = 0.029). Regarding the degree of firmness of the adherence in the eyes with an FFA, the group with a greater degree of firmness had a larger HFL as observed with OCT before surgery (P < 0.05). The visual acuity in patients with an FFA was significantly lower than that in patients without an FFA after surgery (P = 0.031). CONCLUSION: Visual acuity after surgery was significantly lower in patients with an FFA. The presence of an HFL in the OCT demonstrated a high predictive value for firmness of the foveal attachment. The size of an HFL in the OCT was associated with the degree of firmness and allowed us to predict inner and outer retinal damages after surgery.
Subject(s)
Epiretinal Membrane/pathology , Fovea Centralis/pathology , Retinal Diseases/diagnosis , Tomography, Optical Coherence , Aged , Epiretinal Membrane/surgery , Female , Humans , Male , Middle Aged , Retrospective Studies , Visual Acuity/physiology , VitrectomyABSTRACT
In an attempt to present a new surgical technique for arthroscopic bony Bankart fixation, the authors developed the pulled sutures technique. In executing the new method, the authors first passed several non-absorbable sutures through labroligamentous tissue with displaced articular fragment by mimicking transglenoid suture technique. Aimed at achieving a safe and stable fixation, using a knotless anchor rather than transglenoid suture, was deployed. Overall, this pulled sutures technique was shown to be effective with the result of direct reduction, stable, and safe fixation for bony Bankart's lesion.
Subject(s)
Arthroscopy/methods , Shoulder Fractures/surgery , Shoulder Injuries , Shoulder Joint/surgery , Suture Techniques , Fracture Fixation, Internal/methods , Humans , Joint Instability/surgery , Ligaments/surgeryABSTRACT
Autophagy is a cellular degradation process for cellular aggregates and unneeded cellular compartments including damaged mitochondria, ER, and peroxisomes. Melanosome is cellular organelle that is the cellular site of generation, storage and transports of melanin in melanocytes. Despite potential importance of autophagy, the role of autophagy in melanogenesis and melanosome autophagy are largely unknown. In here, we identified 3'-hydroxydaidzein (3'-ODI) as an autophagy inducer from a phytochemical library screening. Treatment with 3'-ODI significantly reduced α-MSH-mediated melanogenesis but efficiently increased autophagy both in melanoma cells and melanocytes. Furthermore, inhibition of autophagy significantly reduced the anti-melanogenic effects of 3'-ODI in α-MSH-stimulated melanoma cells. Taken together, these results suggest that autophagy mediates anti-melanogenic activity of 3'-ODI.
Subject(s)
Autophagy/drug effects , Isoflavones/pharmacology , Melanins/antagonists & inhibitors , Melanocytes/drug effects , Melanosomes/drug effects , Animals , Autophagy/genetics , Autophagy-Related Protein 5 , Cell Line, Tumor , Melanins/biosynthesis , Melanocytes/metabolism , Melanosomes/metabolism , Mice , Microtubule-Associated Proteins/antagonists & inhibitors , Microtubule-Associated Proteins/genetics , RNA Interference , alpha-MSH/pharmacologyABSTRACT
Autophagy is a cooperative process between autophagosomes and lysosomes that degrades cellular organelles. Although autophagy regulates the turnover of cellular components, its role in melanogenesis is not clearly established. Previously, we reported that ARP101 induces autophagy in various cancer cells. Here, we show that ARP101 inhibits melanogenesis by regulation of autophagy. ARP101 inhibited α-MSH-stimulated melanin synthesis and suppressed the expression of tyrosinase and TRP1 in immortalized mouse melanocytes. ARP101 also induced autophagy in melanocytes. Knockdown of ATG5 reduced both anti-melanogenic activity and autophagy mediated by ARP101 in α-MSH treated melanocytes. Electron microscopy analysis further revealed that autophagosomes engulf melanin or melanosome in α-MSH and ARP101-treated cells. Collectively, our results suggest that ARP101 inhibits α-MSH-stimulated melanogenesis through the activation of autophagy in melanocytes.
Subject(s)
Autophagy/drug effects , Cell Differentiation/drug effects , Melanocytes/drug effects , Sulfonamides/pharmacology , alpha-MSH/pharmacology , Animals , Autophagy/genetics , Autophagy-Related Protein 5 , Cell Differentiation/genetics , Cells, Cultured , Down-Regulation/drug effects , Gene Expression Regulation/drug effects , Melanocytes/metabolism , Melanocytes/physiology , Mice , Microtubule-Associated Proteins/genetics , Microtubule-Associated Proteins/metabolism , Monophenol Monooxygenase/genetics , Monophenol Monooxygenase/metabolism , Oxidoreductases/genetics , Oxidoreductases/metabolismABSTRACT
This study was performed to investigate the expression of cathepsin B mRNA and protein in eutopic and ectopic endometrial tissues of patients with endometriosis and in normal endometrial tissues and to clarify the association between the cathepsin B expression and endometriosis. A total of 40 women with histologically confirmed endometriosis were recruited for study group. For controls, 20 women undergoing operative treatment for uterine myoma, cervical intraepithelial neoplasia (CIN) or benign gynecologic conditions other than endometriosis were recruited. Eutopic endometrial tissues of both groups and ectopic endometrial tissue of study group were collected during the operations. We employed real time reverse transcriptase - polymerase chain reaction (RT-PCR) to quantify mRNA levels of cathepsin B in these tissues. Then, we performed western blot analysis to measure the protein levels of cathepsin B. The expressions of cathepsin B mRNA and protein were significantly higher in both eutopic and ectopic endometrial tissues of women with endometriosis than in endometrial tissues of controls. These data suggest that the higher expression of cathepsin B in the endometrial tissues might be associated with the development of endometriosis. In addition, eutopic endometrium itself with higher expression cathepsin B may play a pivotal role in the histogenesis of endometriosis.
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This study was performed to investigate the effect of peroxisome proliferators activated receptor-γ (PPAR-γ) ligand, pioglitazone, on production of regulated upon activation normal T-cell expressed and secreted (RANTES) and in vitro fertilization (IVF) outcome in infertile patients with endometriosis. Sixty-four infertile patients with stage III or IV endometriosis undergoing IVF were randomly allocated to the study or the control group. The long protocol of GnRH agonist (GnRH-a) was used for controlled ovarian stimulation (COS) in all patients. Patients in the study group were treated with pioglitazone at a dose of 15 mg/day orally from the starting day of GnRH-a treatment to the day of hCG injection. Blood samples were drawn for serologic assay of RANTES on the first day of GnRH-a treatment and the day of hCG injection. There were no differences between the study and control groups in patient characteristics. There were also no differences between the two groups in COS duration, and the numbers of retrieved oocytes, fertilized oocytes and embryos transferred. The clinical pregnancy rate per cycle was higher in the study group, but this difference was not statistically significant. However, embryo implantation rate was significantly higher in the study group of 12.5% compared with 8.6% in the control group (P<0.05). The serum RANTES levels after pioglitazone treatment were significantly lower than those before pioglitazone treatmen in the study group (P<0.05). Our data suggest that pioglitazone treatment can suppress RANTES production and improve the embryo implantation rate in patients with endometriosis undergoing IVF.
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PURPOSE: The aim of this study was conducted to investigate the mean nRBC count in very low births weight infants (VLBWIs) and to determine the usefulness of the nRBC as an independent prognostic factors of perinatal complications in VLBWIs. METHODS: This study was conducted on 112 VLBWIs who were hospitalized in the neonatal intensive care unit (NICU) of the author's hospital within the period from March 2003 to and May 2008. Based on the infants' nucleated red blood cells (nRBC) counts at birth, on the third day after birth, on the seventh day after birth, in the second week after birth, and in the fourth week after birth in the medical records, the correlation between nRBC or absolute nRBC counts with birth weight, gestational age, and other perinatal outcomes were retrospectively investigated. RESULTS: In VLBWIs, their mean nRBC and absolute nRBC counts were showing a gradual decrease after birth, and they were consisteantly kept at low values since one week after and inversely proportional to the birth weights. The mean nRBC counts based on the stage after birth showed a significant correlation with perinatal death, necrotizing enterocolitis, and severe intraventricular hemorrhage. CONCLUSION: The increase in the nRBC count showed a significant correlation with having a severe intraventricular hemorrhage, necrotizing enterocolitis, and perinatal death in VLBWIs. If an increase or no decrease in the nRBC count after birth is observed, newborn-infant care precautions should be required.
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The 22q11 region has been implicated in chromosomal rearrangements that result in altered gene dosage, leading to three different congenital malformation syndromes: DiGeorge syndrome, cat-eye syndrome (CES), and der(22) syndrome. Although DiGeorge syndrome is a common genomic disorder on 22q11, CES is quite rare, and there has been no report of Korean CES cases with molecular cytogenetic confirmation. In this study, we present the phenotypic and genetic characteristics of a 3-month-old boy with CES. Clinical findings included micropthalmia, multiple colobomata, and renal and genital anomalies. Cytogenetic analyses showed the presence of a supernumerary marker chromosome, which was identified as a bisatellited and isodicentric chromosome derived from an acrocentric chromosome. The results of array comparative genomic hybridization and fluorescence in situ hybridization studies confirmed the karyotype as 47,XY,+mar.ish idic(22)(q11.1) (D22S43+).arr 22q11.1(15,500,000-15,900,000)x4, resulting in a partial tetrasomy of 22q11.1. To the best of our knowledge, this is the first report in Korea of CES confirmed by cytogenetic and molecular cytogenetic analyses.