Case Presentation - Biventricular Hypertrophy and Valvular Pulmonary Stenosis in Adult Patient with Noonan Syndrome: A Rare Case

Introduction: Noonan syndrome (NS) is a genetic disorder often accompanied by multiple congenital abnormalities. The prevalence of NS at live birth has been reported as one in 1000-2500 individuals. About 80% of patients with Noonan syndrome have abnormalities in the cardiovascular system.Case presentation:41-year-old Javanese male presented with chief complaint shortness of breath. His Body Mass Index (BMI) was 18,3. He had an oval-shaped face with a short neck, thin hair, and prominent nasolabial fold. Echocardiography showed biventricular hypertrophy alongside pulmonary valve stenosis, pulmonary regurgitation and minimal pericardial effusion. Discussion: In 1962, Jacqueline Noonan, a pediatric cardiologist, identified 9 patients whose faces were very similar, had short stature, significant chest deformities, and with pulmonary stenosis. Noonan syndrome is a relatively common non-chromosomal syndrome that is similar to the phenotype of Turner's syndrome and presents with cardiovascular malformations. Adult with NS has distinctive facial features such as ptosis, wide eyes, low posterior rotation of ears and helical thickening, and a wide neck.Pulmonary stenosis is the most common heartdefect found in NS, besides HCM isalsoquitecommon inabout20% of patients. We reported a case of a patient with typical characteristics of NS such as pulmonary valve stenosis accompanied by biventricular ventricular hypertrophyand its typical face who survived through adulthood.Conclusion: Syndrome Noonan in the adult is quite rare and difficult to diagnose. We reported a case of an adult man with facial appearance and echocardiographic findings identical with Noonan Syndrome.

From bed-side to web-side, Advanced-Telemedicine platform for Spinal Muscular Atrophy

We aimed to assess feasibility, accuracy, satisfaction of an advanced-telemedicine (A-TM) platform designed for remote physical evaluation, especially focused on lung auscultation, in spinal muscular atrophy (SMA) patients. Children affected by type 1 and 2 SMA, typically present generalized weakness, scoliosis, chest deformities the leading cause of progressive respiratory insufficiency and recurrent hospitalization. Covid-19 stimulated efforts to adopt innovative digital health solutions especially when caring for people living with disabilities. Because of chest asymmetry and scoliosis, SMA patients are not always the ideal candidates for telemedicine tools that have proved to be useful in the general population. 23 children affected by SMA (15 type 1 and 8 type 2) with different degree of scoliosis and chest asymmetry. Prospective study: We localized optimal thoracic auscultatory landmarks with traditional stethoscope and lung ultrasound for each child. Carers were trained to record complete lung auscultation independently and share data with our physicians via A-TM platform. After the first remote exam, carers videorecorded their experience (satisfaction). Our physicians blindly rated the audio files shared via A-TM which were compared to traditional auscultation findings for each child. to assess. Overall feasibility and accuracy of carers-performed remote physical evaluation. Our study showed that remotely performed lung auscultation was possible in all type 1 and 2 SMA children but adaptations to find optimal landmarks were needed in cases with asymmetrical or rotated chest and trunk. A-TM tools may simplify access to care, reduce logistic/economic burden for families, improve communication, safety and disease management while limiting infection exposure.

Breast Silicone Gel Implants versus Autologous Fat Grafting: Biomaterials and Bioactive Materials in Comparison

In the last 20 years, surgical procedures in breast remodeling during mammoplasty have been deeply modified with a gradual shifting from an invasive intervention using definitive implants (DIs) to a more conservative autologous fat grafting (AFG). AFG has been used for many years as bioactive material through the Lipofilling technique and as a bioactive scaffold when it was enriched with adipose-derived stem cells (ASCs), while DIs have been considered physiologically inert biomaterials with low toxicity. The paper aimed to compare the breast remodeling results obtained in the DI group (55 patients) for hypoplasia correction with those of the ASC-enhanced AFG group (50 patients), also analyzing the influence of breast and chest deformities (tuberous breast, volume, and nipple–areola complex asymmetry, pectus excavatum and carinatum) in the cosmetic outcome. A retrospective, case-control study was conducted. The pre-operative analysis was performed with an accurate clinical evaluation, a photographic assessment, and an instrumental evaluation based on magnetic resonance imaging, mammography, and ultrasound. Of patients treated with DIs 89% (n = 49) showed excellent cosmetic results after 1 year compared with the patients treated with AFG, who showed the same results in 64% (n = 32) of cases. The naturalness of the results in the AFG group was higher than that in the DI group (p < 0.0001 vs. DI group). DIs and AFG were safe and effective in this case series treated. The AFG group showed more natural results, allowing the treatment of patients with pectus excavatum, while DIs showed the more evident and lasting result.

Biomechanical modeling and problematic issues of surgical correction of congenital funnel chest deformity

Congenital funnel chest deformity (CFCD) is noted in 0.6–2.3% of the population and accounts for 90% of all congenital chest deformities. Nuss thoracoplasty is the most common method for treating CFCD, which is considered a minimally invasive technology and provides a quick cosmetic effect. Purpose is to search for models of CFCD and its surgical correction in order to create a technique that is as close to reality as possible, which will make it possible to optimally plan and rationally carry out the forthcoming operation. Analysis of literature sources showed that, on the one hand, the construction of simplified models of the chest allows quick research, but these simplifications do not allow for an objective assessment of the influence and interaction of various elements of the complex biomechanical system «sternum–rib–spine». On the other hand, complex models are more reliable, but hardly available for implementation due to their ultra-high manufacturability and cost. In addition, in studies of stress-strain state on models of the chest, the presence of the spinal column or the interaction of the ribs with the vertebrae has been insufficiently studied. When in the works on modeling road traffic injuries this is justified due to the support of the spine on the seat, then when modeling the correction of chest deformities, the lack of consideration of the mobility of the articular joints and the flexibility of the spinal column can lead to incorrect and false results. It is promising to create a technique for modeling CFCD and its surgical correction in conditions close to reality. This will make it possible to develop a rational modification of thoracoplasty based on the D. Nuss operation under the condition of one–stage full–fledged stable correction and minimal biomechanical loads in the «sternum-rib-spine» system. No conflicts of interest was declared by the authors. Key words: funnel chest deformity, thoracoplasty, biomechanics.

Pulmonary Tuberculosis; A Dominant Etiology of Pulmonary Hypertension in Endemic Areas

Background: Many patients with chronic lung disorders like infections, COPD, ILD, OSA & Thrombo-embolism, present with dyspnea, not showing adequate improvement by conventional treatment. Most of these were diagnosed as pulmonary hypertension by further multidisciplinary work-up. Such patients show reduced life expectancy due to late diagnosis and insufficient treatment. Many TB patients often remain undiagnosed in this context. The understanding of etiology and risk factors is essential for a high index of suspicion. Objective: To explore the etiology of Pulmonary Hypertension in chronic respiratory patients. Study Design: A Retrospective Observational Study. Settings: Male pulmonology ward, Gulab Devi Chest Hospital, Lahore Pakistan. Duration: 37 months from January 2014 to February 2017. Methodology: 231, consecutive cases, having Age >14 years with clinical and radiological suspicion of pulmonary hypertension were included. Patients having Age >90 years and <14years, not willing for further investigations were excluded. Detailed history, physical examination, radiological, hematological, bacteriological biochemical and immunologic findings were recorded. PH was diagnosed by ECG, Echocardiography, CT-Angiography. HRCT thorax & PFTs, were employed to recognize the underlying lung disorders. Risk factors were identified. Data tabulated, analyzed statistically and conclusions were drawn. Results: 69/231 (29.87%) cases with active and 76/231(32.90%) with old-treated TB, 50(21.64%) COPD, 10(4.32%) pneumonia, 5(2.16%) CLD, six bronchiectasis and three cases of chest deformities were diagnosed PH. Cigarette smoking, DM and obesity were major risk factors. Conclusion: Pulmonary Tuberculosis can be the dominant etiology of PH in high prevalence populations.

Small heart anomalies as cardiac manifestations of hereditary connective tissue disorders

Introduction. Small heart anomalies (SHA) are the morphological basis for functional changes in cardiac activity and can exacerbate the course of organic heart lesions. The most studied SHA include false chords of the left ventricle (FCLV) and mitral valve prolapse. Prevalence, association with external signs of dysembryogenesis, as well as the predictive value of SHA are not sufficiently studied. Materials and methods. We examined 611 people between the ages of 18 and 23 (average age 20.3 1.6 years), including 257 boys and 354 girls. All of the surveyed performed phenotypic, anthropometric and echocardiographic examinations. To identify the SHA links to heart rhythm disorders, the 205 surveyed performed Holters ECG monitoring. Results. SHA identified in 90% of the individuals surveyed: atrial septum aneurysm (24%), tricuspid valve prolapse (23.4%), asymmetry of the aortic valve (20.6%), additional papillary muscles (39.4%) and FCLV (75,1%). Correlation analysis showed the presence of links between these SHA and bone signs of dysembryogenesis (chest deformities, arachnodactyllia, dolistennomely and high palate), as well as heart rhythm disorders (supraventricular and ventricular extrasystoles, rhythm driver migration and episodes of AV-blockade 1 degree). Patients with marfanoid habitus have a higher average number of SHA (2.1 1.4 vs 0.9 0.7, p 0.005). Conclusions. SHA are identified in the vast majority of healthy people. Bone signs of dysembryogenesis are associated with significant SHA and can serve as a marker for the involvement of the heart in the dysplastic process. Patients with SHA have significant cardiac arrhythmias.

Homocysteinemia As An Independent Risk Factor For The Development Of Diabetic Kidney Damage In Diabetes Mellitus

The history of the study of hyperhomocysteinemia goes back half a century. It is interesting that the increased level of homocysteine as a factor of vascular damage was first noticed in pediatric practice. In 1969, Kilmer S. MeCully, a professor in the Department of Pathology at Harvard University, studying a rare genetic disorder manifested by homocysteinuria (increased levels of homocysteine in the urine), suggested a link between elevated serum homocysteine levels and arterial disease. Without treatment, these children usually die at an early age from myocardial infarction or cerebral strokes. During autopsy, it was found that their vessels were the same damaged and thickened as in elderly patients with cardiovascular diseases. Clinically, this disease is characterized by a marfan-like phenotype, connective tissue lesions (high growth, arachnodactyly, lens subluxation, chest deformities, heart defects), neuropsychiatric disorders, arterial thrombosis. The pathology is based on a defect in one of the metabolic enzymes of sulfur-containing methionine, mainly in the amino acid cystothionine-E-synthetase (classical tomocysteinuria). Subsequently, it was shown that moderate and mild homocysteinemia affects the vessels of various localization, leading to pathological changes in them.

A 15q25.2 microdeletion phenotype for premature ovarian failure in a Chinese girl: a case report and review of literature

Background Proximal microdeletions on chromosome 15q25.2 are very rare, and are associated with neurodevelopmental delay, inguinal hernia, chest deformities, and anemia. The minimum length missed so far is 1.4 Mb. However, there were no cases reported till date on microdeletions at position q25.2 on chromosome 15 with premature ovarian failure (POF). Case presentation We herein reported a POF case characterized by short stature with only 0.447 Mb deletion on chromosome 15q25.2. The clinical and molecular characteristics in our patient showed the slightest clinical manifestations, with no clinical signs of neurodevelopmental delay, inguinal hernia, chest deformities, and anemia when compared to the previously reported cases. The microdeletions in our case included only 7 genes (HOMER2, FAM103A1, C15orf40, BTBD1, TM6SF1, HDGFRP3 and BNC1), and excluded the CPEB1 gene. Among these, the BNC1 gene is the only one that is known to be involved in reproduction. We hypothesized that the deletion of BNC1 gene in this patient led to haploinsufficiency, and consequently to POF. Conclusions The study of this case increased the knowledge on the molecular and phenotypic consequences of interstitial 15q25.2 deletion, emphasizing that BNC1 gene deletion in this region might contribute to POF.

Noonan Syndrome in 12 -Year-Old Male: Case Report and Orthodontic Management of the Occlusion

SummaryBackground/Aim: Noonan syndrome (NS) is an autosomal dominant disorder, caused by mutations on genes located on the long arm of chromosome 12. The condition has no sex or race predilection and its incidence is 1 per 1,000 – 2,500 live births. Individuals affected with Noonan syndrome have distinctive facial features, hypertelorism, short stature, congenital heart disease; mainly pulmonary stenosis and hypertrophic cardiomyopathy, chest deformities, variable learning disabilities and mental retardation. Orofacial findings in Noonan syndrome may be high-arched palate, micrognathia, dental malocclusion and articulation difficulties.Case report: The present article reports on a male case of 12 years old, referred for treatment in the orthodontic office. Despite the difficulties of hyperactivity, the light mental delay and the gag reflex, the treatment was completed satisfactorily with fixed orthodontic appliances in 15 months. Both the patient and his parents were happy with the results. The patient is presently undergoing the retention period of this orthodontic treatment.Conclusions: Despite the difficulties of treating a child with a genetic syndrome for his/her malocclusion, the reported case presented in this article proves that it is always worth trying for the benefit of the patient.