VP019 TESAR - TOTALLY ENDOSCOPIC SUBLAY ANTERIOR REPAIR - IN MIDLINE DEFECTS REPAIR

Aim In recent years, many minimally invasive techniques have been presented in abdominall wall repair. Since 2018 we have been using TESAR techinque, an anterior endoscopic approach with mesh sublay, published in 2019 from our group. Material and Methods From May 2018 to May 2021 58 Patients referred to our Unit for clinical and radiological diagnosis of ventral defect (Midline hernia, Incisional hernia, Diastasis Recti>5 cm). Exclusion criteria were: maximum defeact width 8 cm, and contraindications to general anesthesia Results All the patients underwent midline repair with TESAR technique. Three TAR were performed, with defect of 8 cm width previously treated with botox. No conversion to laparotomy occured, no intraoperative complications were registered. Total mean operative time was 156 +- 21,5 min. No postoperative major complications, 3 subcoutaneous seromas occurred ,all treated conservatively. The mean Hospital stay was 2.7 + 0.8 days. Conclusions TESAR is a feasible technique for extraperitoneal repair of midline defects with a totally endoscopic approach, allowing a safe repair with good outcomes in terms of resolutions of symtoms and postoperative complications. The video shows the main steps of the technique in diastasis recti and complicated ventral hernia repair.

O08 BIOMECHANICS OF MANUAL, STAPLED, AND MANUAL-STAPLED SUTURES ON FASCIA LATA. TIPS FOR ABDOMINAL WALL SURGEONS

Aim No data on the biomechanical properties of staplers’ use in the repair of abdominal wall defects are available. Our objective is to study prospectively the biomechanical properties of manual, stapled and mixed manual/stapled fascial sutures. Material-Methods Stress/strain tests were performed on 16 human cadaver fascial samples. The data on strength, strain (deformability), Young’s modulus (elasticity), and dissipated energy (toughness modulus) were recorded for each type of suture. Results Stapled and mixed suture showed a significantly higher strength (manual 0.83, stapled 2.10, mixed 2.68 MPa), and a trend towards a higher strain as compared to manual sutures (manual 344, stapled 249, mixed 280%). Stapled and mixed suture were four-fold higher as compared to manual sutures (manual 1.779, stapled 7.374, mixed 6.964 MPa). Manual and mixed sutures showed significantly higher dissipated energy (manual 0.99, vs stapled 0.73, vs mixed 1.35 mJ-mm3). Conclusions Stapled and mixed sutures have better strength performances than manual sutures. On the other hand, stapled and mixed sutures have significantly higher Young’s modulus and lower ultimate strain, showing less deformability, possibly translating in less efficiency in large midline defects, where manual sutures might display higher elasticity. Also, hand-sewn sutures (in manual or over-sewn stapled) appear to increase the ability to absorb mechanical energy, whereas stapled sutures showed to be less tough. Furthermore, an over-sewn stapled suture, as compared to a stapled suture, gains in term of strength, ultimate strain, Young’s modulus, and dissipated specific energy, suggesting the need of over-sewn stapled sutures in case of larger fascial defects.

EMBR-29. PEDIATRIC MEDULLOBLASTOMA PATIENT WITH MULTIPLE MIDLINE DEFECTS, A CASE REPORT

Medulloblastoma (MB) is the most common malignant central nervous system (CNS) cancer diagnosed in childhood and is divided into four subtypes: WNT-activated, SHH-activated, Group 3 (Non-WNT, Non-SHH), and Group 4 (Non-WNT, Non-SHH). Non-WNT/Non-SHH make up roughly two-thirds of MB and have the least understood pathogenesis with substantial intratumoral heterogeneity. Therapeutic targets and treatment strategies for Group 3 and 4 patients therefore remain unclear. In this report we present a 16-year-old patient with standard risk Group 4 medulloblastoma and multiple midline defects. The patient’s medical history was remarkable for a cleft lip (which healed in utero), a notable heart murmur, an inguinal hernia repair at 3 months of age, and significant pectus excavatum. This patient was diagnosed at age 12 with a MB. Tumor cells were negative for GAB-1, p53 stain was positive for approximately 1–2% of tumor cells, no evidence on monosomy 6, MYC or MYCN amplification. The family history is significant for paternal biliary cancer. The patient was treated as per ACNS0331 and is approximately 36 months off-therapy. This case presents an interesting instance of a CNS tumor arising within the microenvironment of wide-spread dysregulated development. Single cases do not provide any substantiative evidence. However, they do give insight on factors which may drive oncogenesis and may provide an indication as to whether we should continue to pursue targeted therapy for Group 3/4 uniformly or move towards personalized therapy strategies in this group patients.

Exstrophy-Epispadias Complex Variants: A Hybrid Case

The term exstrophy-epispadias complex refers to a group of midline defects ranging from epispadias to cloacal exstrophy. Bladder exstrophy is the most frequent malformation of this spectrum and it can present as a classical or a variant form. We report a case of a hybrid bladder exstrophy variant having some characteristics of both a duplicate bladder exstrophy and a superior vesical fistula.

Solitary median maxillary central incisor with congenital strabismus and autoimmune thyroiditis in a young child

Single median maxillary central incisor (SMMCI) syndrome is rare. It is commonly associated with other midline defects. About 50% of children with SMMCI have short stature, associated with isolated growth hormone deficiency or panhypopituitarism.A 6-year-old girl presented to us with worsening convergent squint, slowing linear growth and a suspected pituitary macroadenoma on neuroimaging. The key findings on examination included a disproportionate short stature, SMMCI, congenital abduction defect and pseudohypertrophy of calf muscles with myopathy. The evaluation showed autoimmune thyroiditis with pituitary hyperplasia. Bone age corresponded to 3 years.Three months after initiation of thyroxine, her myopathy resolved, and the hormone profile and neuroimaging were normal. Autoimmune thyroiditis in association with SMMCI is not reported previously. This case study emphasises the importance of growth monitoring and the exclusion of common treatable conditions.

A nonsense variant in FGFR1: a rare cause of combined pituitary hormone deficiency

ObjectivesVariants in fibroblast growth factor receptor-1 (FGFR1) may either cause isolated hypogonadotropic hypogonadism (IHH) or Kallmann syndrome (KS). Although the relationship of genes classically involved in IHH with combined pituitary hormone deficiency (CPHD) is well established, variants in FGFR1 have been presented as a rare cause of this phenotype recently.Case presentationHerein, we report an adopted 16-year-old male presented with delayed puberty and micropenis. He had undergone surgery for bilateral undescended testes in childhood. He was normosmic, and the pituitary imaging was normal. However, hypogonadotropic hypogonadism and growth hormone deficiency were detected, associated with a heterozygous nonsense variant (c.1864 C>T, p.R622X) in FGFR1.ConclusionsFGFR1 variants are among the causes of IHH and KS, which are inherited in an autosomal dominant manner and can be associated with midline defects. It should also be kept in mind that CPHD may be associated with FGFR1 variants in a subject with normal olfactory function.

Hypogonadism: Is It Always Hypogonadotropic in an Adolescent With a Cleft Palate? A Surprising Case of Klinefelter Syndrome

Pituitary hormone deficiencies may occur in children with midline defects; in these cases, hypogonadism is usually hypogonadotropic. Herein, we report a boy at the age of 13.8 years with mild mental retardation, previously operated for complete cleft palate (isolated) and presented with hypoglycemia due to isolated secondary adrenal insufficiency, who further had a decrease in testicular size with increased follicle-stimulating hormone level (hypergonadotropic hypogonadism) and diagnosed with Klinefelter syndrome. Klinefelter syndrome in childhood is rarely diagnosed and cases are observed in a wide spectrum. Although some regional duplications of the X chromosome also show midline defects such as spina bifida-neural tube defects, mental retardation, hypopituitarism (mostly growth hormone deficiency); coexistence of Klinefelter syndrome and isolated secondary adrenal deficiency/midline defect in our case may also be coincidental. However, to our knowledge, this is the first case in literature with this association in a patient with a 47, XXY karyotype.

Retained primary teeth in STAT3 hyper-IgE syndrome: early intervention in childhood is essential

Background STAT3 hyper-IgE syndrome (STAT3-HIES) is a rare primary immunodeficiency that clinically overlaps with atopic dermatitis. In addition to eczema, elevated serum-IgE, and recurrent infections, STAT3-HIES patients suffer from characteristic facies, midline defects, and retained primary teeth. To optimize dental management we assessed the development of dentition and the long-term outcomes of dental treatment in 13 molecularly defined STAT3-HIES patients using questionnaires, radiographs, and dental investigations. Results Primary tooth eruption was unremarkable in all STAT3-HIES patients evaluated. Primary tooth exfoliation and permanent tooth eruption was delayed in 83% of patients due to unresorbed tooth roots. A complex orthodontic treatment was needed for one patient receiving delayed extraction of primary molars and canines. Permanent teeth erupted spontaneously in all patients receiving primary teeth extraction of retained primary teeth during average physiologic exfoliation time. Conclusions The association of STAT3-HIES with retained primary teeth is important knowledge for dentists and physicians as timely extraction of retained primary teeth prevents dental complications. To enable spontaneous eruption of permanent teeth in children with STAT3-HIES, we recommend extracting retained primary incisors when the patient is not older than 9 years of age and retained primary canines and molars when the patient is not older than 13 years of age, after having confirmed the presence of the permanent successor teeth by radiograph.