OBJECTIVE: To study the clinical presentations, visual, and refractive profiles of children with congenital ectopia lentis in a large cohort of patients from a tertiary eye care network in India.
METHODS: A retrospective review of electronic medical records from December 2012 to December 2020 was conducted. Two hundred and ninety-seven consecutive children ≤18 years of age at presentation were identified and analyzed for demographic details, patient distribution, lens subluxation, visual, and refractive profiles before and after the interventions.
RESULTS: Five hundred and ninety-four eyes of 297 (male 56%; n = 166) patients were analyzed. The mean age at presentation was 8.74 ± 3.89. Best-corrected visual acuity (BCVA) at presentation ranged from 0.3 logMAR to 3.5 logMAR; (Snellen: 6/9 - close to face [CF]) (mean 0.89 ± 0.68). High myopia (n = 201; 33.83%) and mild astigmatism (n = 340; 57.23%) were more frequent. Temporal (n = 108; 18.18%) subluxation was most common followed by superior. Lensectomy with limited vitrectomy was performed in 243 eyes of 127 patients (40.90%). Median preoperative BCVA was 1.0 (range: 0.3-3.5 logMAR; 20/40 - CF). Median postoperative BCVA was 0.5 logMAR (6/18) in the pseudophakic group and 0.6 logMAR (6/24) in the aphakic group. Spherical equivalent in myopic children reduced from -12.06 ± 6.84D to -1.57D (-0.25D to - 5.5D) in the pseudophakic group and +9.3D (+5.5D to 15.5D) in the aphakic group.
CONCLUSIONS: This study is a large cohort of children presenting with ectopia lentis. Following intervention, an improvement in the median BCVA and refractive correction was noted in the entire cohort.

BACKGROUND: Individuals diagnosed with connective tissue disorders (CTD) are known to be predisposed to incisional hernia formation. However, there is a scarcity of data on outcomes for these patients undergoing hernia repair. We sought to describe our outcomes in performing abdominal wall reconstructions in these complex patients.
METHODS: Adult patients with CTD undergoing open, elective, posterior component separation with permanent synthetic mesh at our institution from January 2018 to October 2022 were queried from a prospectively collected database in the Abdominal Core Health Quality Collaborative. We evaluated 30-day wound morbidity, perioperative complications, long-term hernia recurrence, and patient-reported quality of life.
RESULTS: Twelve patients were identified. Connective tissue disorders included Marfan\'s n = 7 (58.3%), Loeys-Dietz syndrome n = 2 (16.7%), Systemic Lupus Erythematosus n = 2 (16.7%), and Scleroderma n = 1 (8.3%). Prior incisions included three midline laparotomies and nine thoracoabdominal, mean hernia width measured 14 cm, and 9 were recurrent hernias. Surgical site occurrences (SSOs) were observed in 25% of cases, and 16.7% necessitated procedural intervention. All twelve patients were available for long-term follow-up, with a mean of 34 (12-62) months. There were no instances of reoperation or mesh excision related to the TAR procedure. One patient developed a recurrence after having his mesh violated for repair of a new visceral aneurysm. Mean HerQLes scores at 1 year were 70 and 89 at ≥ 2 years; Mean scaled PROMIS scores were 30.7 at 1 year and 36.3 at ≥ 2 years.
CONCLUSIONS: Ventral hernia repair with TAR is feasible in patients with connective tissue disorder and can be a suitable alternative in patients with large complex hernias.

Marfan´s syndrome is a multisystemic, autosomal dominant congenital abnormality of variable penetrance that affects the integrity of connective tissue. In the cardiovascular system, the dysfunction of the physiology of the aortic root and the myocardial fibrosis originates non-ischemic cardiomyopathy independent of valve lesions. Few data have been reported on the prevalence of arrhythmias and its impact on heart function. We present a 21-year-old man with Marfan\'s syndrome and heart failure with frequent supraventricular arrhythmias and aortic root dilation. After ablation in the posteroseptal area of the mitral ring and Tirone David Surgery, there was clinical improvement, the left ventricular ejection fraction increased dramatically from 33% to 46%, the left ventricular end-diastolic volume decreased from 90 ml/m2 to 77 ml/m2 and the NT-proBNP decrease from 1100 pg/mL at 180 pg/mL.
El síndrome de Marfan es una anomalía congénita multisistémica, autosómica dominante y de penetrancia variable que afecta a la integridad del tejido conectivo. En el sistema cardiovascular, también se ha descrito la disfunción de la fisiología de la raíz aórtica y la fibrosis miocárdica que origina una miocardiopatía no isquémica independiente de las lesiones valvulares. Se han comunicado pocos datos sobre la prevalencia de arritmias y su repercusión en la función cardiaca. Presentamos el caso de un varón de 21 años con síndrome de Marfan e insuficiencia cardiaca con frecuentes arritmias supraventriculares y dilatación de la raíz aórtica. Después de la ablación en la zona posteroseptal del anillo mitral y la cirugía de Tirone David, hubo mejoría clínica, la fracción de eyección ventricular izquierda aumentó espectacularmente del 33 al 46%, el volumen telediastólico ventricular izquierdo disminuyó de 90 a 77 mL/m* y el NT-proBNP disminuyó de 1100 a 180 pg/mL.

OBJECTIVE: To investigate bone fragility in patients with hereditary connective tissue disorders (HCTD), including Ehlers-Danlos syndrome (EDS), Marfan\'s syndrome (MFS) and Loeys-Dietz syndrome (LDS).
METHODS: From inception to June 2022, potentially eligible studies were identified in the Medline and EMBASE databases using search strategy that included terms for \"HCTD\", \"Fracture\" and \"Osteoporosis\". Eligible studies must consist of a group of patients with HCTD and report prevalence/incidence of fracture/osteoporosis in their participants, with or without comparison with healthy individuals. Point estimates with standard errors were obtained from each study and combined using the generic inverse variance method.
RESULTS: Among the 4206 articles identified, 19 studies were included. The pooled prevalence of fracture in EDS, MFS, and LDS were 44% (95% confidence interval [CI], 25% to 65%, I2 88%), 17% (95% CI, 11% to 26%, I2 68%), 69% (95% CI, 47% to 85%, I2 83%), respectively. The pooled prevalence of osteoporosis in EDS was 17% (95% CI, 8% to 34%, I2 96%). EDS was associated with fracture [pooled odds ratio {OR} 4.90 (95% CI, 1.49 - 16.08, I2 86%)], but not osteoporosis [pooled OR 1.34 (95% CI, 0.28 - 6.36, I2 87%). One study reported a 5% (95% CI, 3% to 8%) prevalence of osteoporosis in MFS, which was associated with fracture [incidence rate ratio 1.35 (95% CI, 1.18 - 1.55)] and osteoporosis [subhazard ratio 3.97 (95% CI, 2.53 - 6.25)].
CONCLUSIONS: EDS was associated with fracture, which could be independent of osteoporosis status. MFS had a milder degree of increased risk of fracture and osteoporosis. Despite no data from cohort studies, there was a significantly higher rate of fracture in LDS.

UNASSIGNED: The management of ocular complications of Marfan\'s syndrome, especially ectopia lentis, is challenging. In this study, we present the effectiveness and the safety of iris-claw intraocular lens (IOL) implantation along with lensectomy for those patients. Also, we compare the practice of implanting these IOLs either in the anterior chamber of retropupillary.
UNASSIGNED: Retrospectively, we included all patients with Marfan\'s syndrome who underwent lensectomy with iris-claw IOL implantation as a result of ectopia lentis. The patients were categorized into two groups: anterior chamber iris claw IOL and retropupillary iris-claw IOL. The clinical and demographic data, the visual outcome and postoperative complications were compared.
UNASSIGNED: Eighteen eyes of 10 patients were included in the study. The mean age of the patients was 19.1 years. Six patients were males. The iris-claw IOL was implanted anteriorly in 13 eyes. The visual outcome was comparable between both groups and most patients achieved improvement in the visual acuity. In addition, the postoperative complications developed similarly in both groups. However, all cases of IOL disenclavation (6 cases) developed in the anterior group. It is revealed that the age of the patient was the most significant factor affecting the occurrence of IOL disenclavation.
UNASSIGNED: Iris-claw IOL (either anteriorly or retropupillary) is an effective and relatively safe method in treating ectopia lentis in patients with Marfan\'s syndrome. In younger patients, anterior iris-claw IOL is safer than retropupillary iris-claw IOL as the risk of disenclavation is higher in younger patients.

In the course of time, correction of the ectopia lentis in Marfan\'s syndrome has been approached through quite many surgical techniques. They addressed the iris, or the lens and aimed at increasing the aphakic zone, the opacification or removal of the lens. Although associated to many complications, the first techniques proved the courage and imagination of pioneer surgeons and are worth mentioning. They were steps towards the invention of current techniques and devices that make surgery of ectopia lentis safe, easy, and having a favorable prognosis.

Pediatric equinus is broadly defined as generalized limited dorsiflexion at the ankle joint. It may result from either congenital or acquired causes and exhibit varying characteristics such as flexible, rigid, or spastic types. It has been extensively studied in literature and is known to be associated with the pathological condition of the bone, soft tissue, or combined deformity. In children, rigid plantarflexed cases can be debilitating and prevent them from ambulating without pain, if at all. As this volume in Clinics has chapters on comprehensive pediatric examination and neuromuscular disorders, this article will focus on (non-neurologic equinus) and its treatment via conservative and surgical methods with an emphasis on gradual correction.

BACKGROUND: Ehlers-Danlos syndrome is a clinically and genetically heterogeneous group of heritable connective tissue disorders caused by a defect in collagen synthesis and structure. The vascular subtype (Ehlers-Danlos syndrome IV) is reported to be associated with a higher incidence of gastrointestinal perforations. The most reported site of perforation is the colon, followed by the small bowel. Perforation of the stomach is very rare, and there are no reported cases to date of classic types I and II.
METHODS: We present the case of a 14-year-old Saudi girl who visited our emergency department with abdominal pain and vomiting. Initially, she was diagnosed with gastroenteritis and discharged once her condition stabilized. After 48 hours, she developed severe abdominal pain with recurrent vomiting and peritonitis evident on clinical examination. Initial abdominal x-ray failed to show any free air; however, enhanced computed tomography revealed free air and contrast extravasation in the proximal gut. During exploratory laparotomy, a large perforation was found on the anterior wall of the stomach due to the underlying ischemia. The posterior wall had ischemic mucosa with an intact healthy serosa. A free-hand partial gastrectomy was performed to resect all ischemic parts of the stomach. Detailed examinations and laboratory workup were carried out after the surgery to figure out the possible underlying cause. The clinical findings during the physical examination supported marfanoid features. Marfan\'s syndrome and related disorders sequencing panel was requested, and Deoxyribonucleic acid (DNA) samples were sent. Given results were supporting the diagnosis of classical Ehlers-Danlos syndrome, the patient was labeled as a case of Ehlers-Danlos syndrome. During the postoperative period, she developed a wound infection that was managed successfully with vacuum-assisted closure dressing. She recovered well without gastrointestinal sequelae in the 4 years of follow-up.
CONCLUSIONS: Heritable systemic connective tissue diseases must be given serious consideration in young patients with unusual spontaneous perforation. Such patients might develop life-threatening conditions that require immediate intervention. Hence, correct and timely diagnosis is important to prepare for the anticipated complications.

The involvement of highly reactive oxygen-derived free radicals (ROS) in the genesis and progression of various cardiovascular diseases, including arrhythmias, aortic dilatation, aortic dissection, left ventricular hypertrophy, coronary arterial disease and congestive heart failure, is well-established. It has also been suggested that ROS may play a role in aortic aneurysm formation in patients with Marfan\'s syndrome (MFS). This syndrome is a multisystem disorder with manifestations including cardiovascular, skeletal, pulmonary and ocular systems, however, aortic aneurysm and dissection are still the most life-threatening manifestations of MFS. In this review, we will concentrate on the impact of oxidative stress on aneurysm formation in patients with MFS as well as on possible beneficial effects of some agents with antioxidant properties. Mechanisms responsible for oxidative stress in the MFS model involve a decreased expression of superoxide dismutase (SOD) as well as enhanced expression of NAD(P)H oxidase, inducible nitric oxide synthase (iNOS) and xanthine oxidase. The results of studies have indicated that reactive oxygen species may be involved in smooth muscle cell phenotype switching and apoptosis as well as matrix metalloproteinase activation, resulting in extracellular matrix (ECM) remodeling. The progression of the thoracic aortic aneurysm was suggested to be associated with markedly impaired aortic contractile function and decreased nitric oxide-mediated endothelial-dependent relaxation.

The patient was a 31-year-old pregnant woman who gave birth to her first child by vaginal delivery 7 years ago. She was diagnosed with Marfan\'s syndrome based on physical findings; however, the condition was not diagnosed before the onset. The patient developed acute aortic dissection at 28 weeks of pregnancy. A cesarean section was first performed to save the patient\'s life; then, a total hysterectomy was performed to prevent the risk of postpartum hemorrhage. Furthermore, aortic root replacement was performed using a temporary mechanical valve. The patient and her child have survived without any complications.