Congenital fibrosis of extraocular muscles (CFEOM) syndrome is a genetically determined congenital disorder characterized by non-progressive ophthalmoplegia, restrictive ocular fixation, and ptosis. Its estimated incidence is approximately 1 in 230 000 to 250 000. This paper reports a family with type 3 CFEOM diagnosed at the Second Xiangya Hospital of Central South University. The proband was a 10-year-old female who presented with right esotropia and right upper eyelid ptosis. Whole-exome sequencing revealed a heterozygous c.904G>A mutation in the TUBB3 gene. Genetic testing of family members identified that the proband's mother carried the same mutation and exhibited left eyelid ptosis. The child underwent strabismus correction followed by ptosis repair, both of which led to marked postoperative improvement. For children presenting with congenital extraocular movement restriction and ptosis, genetic testing plays a crucial role in confirming the diagnosis and guiding family analysis. Additionally, individualized surgical intervention can significantly improve both ocular function and cosmetic appearance.
Humans ; Female ; Child ; Ophthalmoplegia/congenital* ; Fibrosis/congenital* ; Blepharoptosis/surgery* ; Mutation ; Tubulin/genetics* ; Pedigree ; Male ; Esotropia/genetics* ; Congenital Cranial Dysinnervation Disorders

Congenital fibrosis of the extraocular muscles (CFEOM) is a rare, congenital, non-progressive disorder presenting with partial or total ophthalmoplegia, with variable degrees of ptosis in both eyes. We present the clinical manifestations of congenital fibrosis of the extraocular muscles in two patients. Both patients presented with bilateral ptosis and variable ophthalmoplegia with a chin-up posture. The ocular deviations have been noted since birth. No patient demonstrated a Marcus-Gunn jaw-winking phenomenon. Both patients had a mild refractive error with with-the-rule astigmatism. Deviation for both patients revealed exotropia with varying amounts of hypotropia and limitations in the movement of extraocular muscles. Both patients presented no abnormalities in the pupils. Neuroimaging revealed atrophy of the extraocular muscles. Diagnosis of CFEOM in a resource-poor setting is also challenging due to inaccessible gene testing. Manifestations of CFEOM vary across affected patients. CFEOM proposes challenges to the ophthalmologist with regards to management.
congenital fibrosis ; extraocular muscles ; congenital cranial dysinnervation disorders

Objective: To investigate the representability and etiological diagnostic value of myocardium samples obtained from patients with hypertrophic cardiomyopathy (HCM) by transthoracic echocardiography-guided percutaneous intramyocardial septal biopsy (myocardial biopsy of Liwen procedure). Methods: This study was a retrospective case-series analysis. Patients with HCM, who underwent myocardial biopsy of Liwen procedure and radiofrequency ablation in Xijing Hospital, Air Force Military Medical University from July to December 2019, were included. Demographic data (age, sex), echocardiographic data and complications were collected through electronic medical record system. The histological and echocardiographic features, pathological characteristics of the biopsied myocardium of the patients were analyzed. Results: A total of 21 patients (aged (51.2±14.5) years and 13 males (61.9%)) were enrolled. The thickness of ventricular septum was (23.3±4.5)mm and the left ventricular outflow tract gradient was (78.8±42.6)mmHg (1 mmHg=0.133 kPa). Eight patients (38.1%) were complicated with hypertension, 1 patient (4.8%) had diabetes, and 2 patients (9.5%) had atrial fibrillation. Hematoxylin-eosin staining of myocardial samples of HCM patients before radiofrequency ablation evidenced myocytes hypertrophy, myocytes disarray, nuclear hyperchromatism, hypertrophy, atypia, coronary microvessel abnormalities, adipocyte infiltration, inflammatory cell infiltration, cytoplasmic vacuoles, lipofuscin deposition. Interstitial fibrosis and replacement fibrosis were detected in Masson stained biopsy samples. Hematoxylin-eosin staining of myocardial samples of HCM patients after radiofrequency ablation showed significantly reduced myocytes, cracked nuclear in myocytes, coagulative necrosis, border disappearance and nuclear fragmentation. Quantitative analysis of myocardial specimens of HCM patients before radiofrequency ablation showed that there were 9 cases (42.9%) with mild myocardial hypertrophy and 12 cases (57.1%) with severe myocardial hypertrophy. Mild, moderate and severe fibrosis were 5 (23.8%), 9 (42.9%) and 7 (33.3%), respectively. Six cases (28.6%) had myocytes disarray. There were 11 cases (52.4%) of coronary microvessel abnormalities, 4 cases (19.0%) of adipocyte infiltration, 2 cases (9.5%) of inflammatory cell infiltration,6 cases (28.5%) of cytoplasmic vacuole, 16 cases (76.2%) of lipofuscin deposition. The diameter of cardiac myocytes was (25.2±2.8)μm, and the percentage of collagen fiber area was 5.2%(3.0%, 14.6%). One patient had severe replacement fibrosis in the myocardium, with a fibrotic area of 67.0%. The rest of the patients had interstitial fibrosis. The myocardial specimens of 13 patients were examined by transmission electron microscopy. All showed increased myofibrils, and 9 cases had disorder of myofibrils. All patients had irregular shape of myocardial nucleus, partial depression, mild mitochondrial swelling, fracture and reduction of mitochondrial crest, and local aggregation of myofibrillary interfascicles. One patient had hypertrophy of cardiomyocytes, but the arrangement of muscle fibers was roughly normal. There were vacuoles in the cytoplasm, and Periodic acid-Schiff staining was positive. Transmission electron microscopy showed large range of glycogen deposition in the cytoplasm, with occasional double membrane surround, which was highly indicative of glycogen storage disease. No deposition of glycolipid substance in lysozyme was observed under transmission electron microscope in all myocardial specimens, which could basically eliminate Fabry disease. No apple green substance was found under polarized light after Congo red staining, which could basically exclude cardiac amyloidosis. Conclusion: Myocardium biopsied samples obtained by Liwen procedure of HCM patients are representative and helpful for the etiological diagnosis of HCM.
Biopsy/adverse effects* ; Cardiomegaly/pathology* ; Cardiomyopathy, Hypertrophic/diagnosis* ; Eosine Yellowish-(YS) ; Fibrosis ; Heart Defects, Congenital ; Hematoxylin ; Humans ; Lipofuscin ; Male ; Myocardium/pathology* ; Retrospective Studies

STUDY DESIGN: To induce scoliosis in young female Wistar rats using a noninvasive method and to validate this model. PURPOSE: To induce scoliosis in a rat model noninvasively by bracing and to study the corresponding gene-expression profile in the spine and different organs. OVERVIEW OF LITERATURE: Scoliosis involves abnormal lateral curvature of the spine, the causes of which remain unclear. In the literature, it is suggested that scoliosis is genetically heterogeneous, as there are multiple factors involved directly or indirectly in its pathogenesis. Clinical and experimental studies were conducted to understand the etiology of anatomical alterations in the spine and internal organs, as the findings could help clinicians to establish new treatment approaches. METHODS: Twelve female Wistar rats aged 21 days were chosen for this study. Customized braces and real-time polymerase chain reaction (RT-PCR) primers for rats were designed using Primer 3 software. Radiological analysis (X-rays), histopathological studies, SYBR green, and RT-PCR analysis were performed. RESULTS: The spines of six rats were braced in a deformed position, which resulted in a permanent structural deformity as confirmed by X-ray studies. The remaining rats were used as controls. Quantitative studies of the expression of various genes (osteocalcin, pleiotrophins, matrix metalloproteinase-2 [MMP2] and MMP9, TIMP, interleukins 1 and 6, tumor necrosis factor-α) showed their differential expression and significant upregulation (p < 0.05) in different organs of scoliotic rats in comparison to those in control rats. Histopathological findings showed tissue necrosis and fibrosis in the brain, retina, pancreas, kidney, liver, and disc of scoliotic rats. CONCLUSIONS: Bracing is a noninvasive method for inducing scoliosis in an animal model with 100% reliability and with corresponding changes in gene expression. Scoliosis does not just involve a spine deformity, but can be referred to as a systemic disease on the basis of the pathological changes observed in various internal organs.
Animals ; Braces ; Brain ; Congenital Abnormalities ; Female ; Fibrosis ; Gene Expression ; Humans ; Inflammation ; Interleukins ; Kidney ; Liver ; Matrix Metalloproteinase 2 ; Methods ; Models, Animal ; Necrosis ; Pancreas ; Rats ; Rats, Wistar ; Real-Time Polymerase Chain Reaction ; Retina ; Scoliosis ; Spine ; Up-Regulation

Post-traumatic hematoma formation is a common complication of contusion. If the hematoma is large enough to aspirate or drain, it can be treated quickly and appropriately. However, if the hematoma is small or concealed by local swelling, it may be overlooked and left untreated. In most cases, a hematoma will resolve following conservative treatment; however, associated infection or muscle fibrosis can occur. Herein, we present the case of a patient with a chin deformity caused by a post-traumatic hematoma. The deformity was treated using botulinum toxin and triamcinolone acetonide injections as minimally invasive treatments. The course of treatment was good.
Botulinum Toxins ; Chin ; Congenital Abnormalities ; Contusions ; Facial Asymmetry ; Fibrosis ; Hematoma ; Humans ; Triamcinolone Acetonide

Peyronie's disease (PD) is an inflammatory disorder characterized by an abnormal collagen deposition in the tunica albuginea of the penis, leading to fibrous and non-compliant plaques that can impede normal erection. Although pharmacological treatments are available, only intralesional injection therapy and surgical reconstruction have demonstrated tangible clinical efficacy in the management of this condition. Intralesional injection of collagenase clostridium histolyticum (CCH) has come to the forefront of minimally invasive treatment of PD. In this review, the authors provide an update on the safety, efficacy, and indications for CCH. The efficacy of CCH will be assessed on the basis of improvement in the severity of penile fibrosis, curvature, and pain. Numerous well-designed clinical trials and post-approval studies involving more than 1,500 patients have consistently demonstrated the efficacy and tolerability of CCH in the treatment of PD. CCH significantly decreases penile curvature and plaque consistency, as well as improves quality of life. Post-approval studies continue to demonstrate the efficacy of CCH despite broader inclusion criteria for treatment, such as the case with acute phase disease and atypical plaque deformities (i.e., ventral plaques, hourglass narrowing). CCH continues to be the gold standard for non-surgical management of stable phase PD, in the absence of strong evidence supporting oral therapy agents and ongoing evaluation of extracorporeal shockwave therapy. However, recent studies are beginning to provide precedent for the use of CCH in the management of acute phase and atypical PD.
Collagen ; Collagenases* ; Congenital Abnormalities ; Fibrosis ; Humans ; Injections, Intralesional ; Male ; Microbial Collagenase* ; Penile Induration* ; Penis ; Quality of Life ; Treatment Outcome ; Urologic Diseases

BACKGROUND: Diabetic cardiomyopathy is an important causal factor in morbidity and mortality among diabetic patients, and currently, no effective means are available to reverse its pathological progress. The purpose of the present study was to investigate the effect of ginger extract on apolipoproteins (apo) A and B, hyperhomocysteinemia, cathepsin G and leptin changes, as well as cardiac fibrosis and heart muscle cell proliferation under hyperglycemic conditions in vivo. METHODS: Twenty-four male Wistar rats were divided into three groups, namely: control, non-treated diabetic, and ginger extract-treated diabetic groups. The ginger extract-treated diabetic group received a 50 mg daily dose of ginger extract intragastrically for 6 weeks. RESULTS: The results revealed concurrent significant increases in plasma C-reactive protein (CRP), homocysteine (Hcy), cathepsin G and apoB levels and decreases in apoA and leptin levels in the non-treated diabetic group compared to the control group. Moreover, heart structural changes, including fibrosis and heart muscle cell proliferation, were observed in non-treated diabetic rats compared to the control rats. Significant amelioration of changes in the heart structure together with restoration of the elevated levels of Hcy and CRP, leptin, cathepsin G, and apoA and B were found in the ginger extract-treated diabetic group compared to the non-treated diabetic group. CONCLUSION: The findings indicated that ginger extract significantly reduces heart structural abnormalities in diabetic rats and that these effects might be associated with improvements in serum apo, leptin, cathepsin G, and Hcy levels and with the antioxidant properties of ginger extract.
Animals ; Apolipoproteins A ; Apolipoproteins B ; C-Reactive Protein ; Cathepsin G ; Diabetic Cardiomyopathies ; Fibrosis ; Ginger* ; Heart Defects, Congenital* ; Heart* ; Homocysteine ; Humans ; Hyperhomocysteinemia ; Leptin ; Male ; Mortality ; Myocytes, Cardiac ; Plasma ; Rats* ; Rats, Wistar

BACKGROUND: Ulnar nerve palsy leads to thumb-web depression, hypothenar flattening, and inter-digital depression in patients with leprosy. To camouflage these deformities, patients used to inject paraffin or silicone oil into the areas of muscle atrophy associated with thumb-web depression and hypothenar flattening. After several years and decades, paraffinomas eventually resulted in extensive inflammatory fibrosis and recalcitrant recurrent ulcers at the injection sites. OBJECTIVE: The aim of this study is to compare the results of different surgical treatments for paraffinomas in patients with leprosy, and to find out the most effective treatment method that has a low recurrence rate. METHODS: Between January 2000 and December 2012, 47 patients with paraffinomas who had visited the Korean Hansen Welfare Association Hospital were enrolled to participate in the study. The number of paraffinomas was 56, and the mean age of the patients was 73 years. A retrospective evaluation of the cosmetic results and recurrence rate was performed. RESULTS: Of the 56 surgically treated paraffinomas, 30 lesions were treated using primary closure, 20 lesions were treated with skin graft, and 6 lesions were treated with skin flap. The cosmetic outcomes, which were assessed using a four-point grading scale, were excellent in 10.7% (6/56), good in 25% (14/56), fair in 38% (21/56), and poor in 28% (15/56) of the patients. There were no significant differences among the three surgical procedures with respect to the cosmetic results. The recurrence rate was 33% (10/31) in the primary closure group, 50% (10/20) in the skin graft group, and 17% (1/6) in the skin flap group. There were no significant differences in the recurrence rate among the three surgical procedures. CONCLUSION: The extensive and aggressive curettage of lesions is very important to reduce recurrence rate. When the older age of the patients is considered in conjunction with the simplicity of the operation and the total operation time, primary closure is considered the treatment of choice both cosmetically and practically.
Congenital Abnormalities ; Curettage ; Depression ; Fibrosis ; Humans ; Leprosy* ; Muscular Atrophy ; Paraffin ; Recurrence ; Retrospective Studies ; Silicone Oils ; Skin ; Transplants ; Ulcer ; Ulnar Neuropathies

OBJECTIVETo determine the expression pattern of Slc26a3 gene in reproductive tract of male rodents to clarify whether the expression pattern is related to the subfertility observed in congenital chloride diarrhea (CLD) disease.

METHODSThe expression of Slc26a3 in mouse and rat epididymis has been studied with immunohistochemistry and Western blotting. Its developmental expression pattern in rat testis was detected by Western blotting, while both of immunofluorescence and Western blotting were used to localize the expression of Slc26a3 in mouse sperms. The potential change of Slc26a3 expression in CFTR (cystic fibrosis transmembrane conductance regulator) knockout mice and CFTR mutant mice was also detected with Western blotting.

RESULTSThe expression level of Slc26a3 gradually decreased along epididymis from its caput to corpus, then to its cauda part. This gradually decreasing expression pattern was also found in rat testis during development. Slc26a3 was localized mainly on the trunk of mouse sperm tail. In the testis and epididymis of CFTR knockout mice and CFTR mutant mice, no significant change of Slc26a3 expression was found.

CONCLUSIONSlc26a3 is expressed in male reproductive tract, and its expression pattern is related to the function. Thus, the subfertility observed in CLD disease may be related to the important role of SLC26A3 in acid-base regulation of epididymis.

Animals ; Antiporters ; genetics ; metabolism ; Blotting, Western ; Cystic Fibrosis Transmembrane Conductance Regulator ; genetics ; metabolism ; Diarrhea ; congenital ; genetics ; metabolism ; Epididymis ; growth & development ; metabolism ; Immunohistochemistry ; Male ; Metabolism, Inborn Errors ; genetics ; metabolism ; Mice, Inbred CFTR ; Mice, Inbred ICR ; Mice, Knockout ; Rats, Sprague-Dawley ; Spermatozoa ; metabolism ; Testis ; growth & development ; metabolism

BACKGROUND AND OBJECTIVES: Variety of pathological factors including viral hepatitis, alcohol and drug abuse, metabolic diseases, autoimmune diseases and congenital abnormalities can cause hepatic injury. Liver transplantation is the treatment of choice for end-stage liver diseases, however, it faces several difficulties. So the aim of the work is to evaluate the effect of bone marrow derived mesenchymal stem cells (BM-MSCs) on the liver structure in carbon tetra chloride CCL4 induced liver fibrosis in rats. MATERIALS AND RESULTS: BM-MSCs were isolated and characterized from long bones of twenty male albino rats. Sixty female rats were divided into the following two groups: Group I; thirty rats which were the control group. Group II; thirty rats were injected intra-peritoneal (IP) by CCL4 twice weekly for four weeks and was further subdivided into the following three subgroups: Subgroup IIA (CCL4 alone); included ten rats which were sacrificed after this four weeks. Subgroup IIB (CCL4/MSCs); included ten rats which were IP injected by a single dose of BM-MSCs and were sacrificed after four weeks. Subgroup IIC (CCL4/recovery); included ten rats which were left for another four weeks without any intervention. Histological examination of liver specimens showed that CCl4 caused variable pathological changes with elevated liver enzymes. Injection of BM-MSCs revealed an improvement in the histological picture of the liver and its enzymatic profile. On the other hand, most of the pathological lesion were still detected in rats of recovery group. CONCLUSIONS: BM-MSC could restore the liver structure and function in experimental model of liver fibrosis.
Animals ; Autoimmune Diseases ; Bone Marrow* ; Carbon ; Characidae ; Congenital Abnormalities ; Female ; Fibrosis ; Hand ; Hepatitis ; Humans ; Liver ; Liver Cirrhosis* ; Liver Diseases ; Liver Transplantation ; Male ; Mesenchymal Stromal Cells* ; Metabolic Diseases ; Models, Theoretical ; Rats* ; Substance-Related Disorders