Gonadal Failure in a Male With 3-M Syndrome

OMIM 273750 (3-M) syndrome is a rare cause of severe short stature with variable dysmorphic features caused by pathogenic variants in several genes including cullin7 gene (CUL7). Hypogonadism and hypospadias have been described in only a few males. We report a patient with CUL7 pathogenic variant who had bifid scrotum and perineal hypospadias at birth. He entered puberty spontaneously at age 12 years and appropriately completed pubertal development by 15 years. Subsequently, a regression of testicular volumes, increased gonadotropin levels, and reduced (although normal) testosterone levels were observed. This case highlights the importance of careful pubertal monitoring as pubertal dysfunction may be associated with 3-M syndrome

Gonadal Failure in a Male With 3-M Syndrome

OMIM 273750 (3-M) syndrome is a rare cause of severe short stature with variable dysmorphic features caused by pathogenic variants in several genes including cullin7 gene (CUL7). Hypogonadism and hypospadias have been described in only a few males. We report a patient with CUL7 pathogenic variant who had bifid scrotum and perineal hypospadias at birth. He entered puberty spontaneously at age 12 years and appropriately completed pubertal development by 15 years. Subsequently, a regression of testicular volumes, increased gonadotropin levels, and reduced (although normal) testosterone levels were observed. This case highlights the importance of careful pubertal monitoring as pubertal dysfunction may be associated with 3-M syndrome

Development and Pilot Implementation of a 3D Printed Prototype for Surgical Education and Preoperative Planning in Blount's Disease

Blount’s disease is a complex pediatric orthopedic disorder characterized by progressive tibial deformities, necessitating precise surgical planning. Traditional imaging techniques often fail to provide a comprehensive assessment. This study explores the role of 3D-printed anatomical models in enhancing surgical planning and medical training, particularly within the Jordan Royal Medical Services. This study focuses on a 12-year-old patient with a severe multiplanar tibial deformity. A 3D model of the patient’s tibia and fibula was generated using CT scan data, segmented via 3D Slicer software, and printed using FormLabs Form 3BL SLA 3D printer. The printed model was utilized in a pediatric orthopedic workshop attended by over 30 surgeons. Seven surgeons responded to the post-workshop survey. It revealed that all participants found the 3D model beneficial for understanding anatomical deformities, enhancing surgical preparedness, and improving procedural accuracy. However, challenges such as cost, material rigidity, and production time were noted as barriers to widespread adoption. Future research should focus on optimizing material properties and reducing costs to facilitate broader implementation in surgical education and planning in Jordan

Presentation and treatment of pediatric supracondylar fractures of the distal humerus at Prince Rashid ibn Al-Hasan Military hospital

Background: A supracondylar humerus fracture (SCH) is one of the common fractures that are seen in the pediatric age group, with the most common age (5-7) years as described in the literature. Objectives was to study the presentation and treatment of SCH fractures in children at Prince Rashid bin Al Hassan Military Hospital, Jordanian Royal Medical Services. Methods: This study followed a retrospective design. Patients’ ages (1-14) years who attended the emergency department of Prince Rashid Hospital and were diagnosed with SCH were included in this study. All these patients’ data were statistically analyzed; descriptive analysis was performed for all variables. An association analysis used a chi-square test to find any association between the study variables and treatment modality variables. Results: The commonest age is 5 and 2 years; the male gender is more affected by the SCH fracture, and the left upper extremity is more affected by this fracture. The commonest direction of fracture displacement is posteromedial, with a percentage of 72.1%. Only 21.3% of SCH fractures required conservative treatment. The results showed an association between treatment modality and both directions of displacement and fracture type. Conclusions: A SCH fracture is one of the common fractures involving the pediatric age group that requires surgical intervention; 79.7% of cases require surgical intervention. Distal radius fracture is the most commonly associated injury with the SCH fracture. This study found an association between the treatment modality with both displacement direction and fracture type

2017 HRS/EHRA/ECAS/APHRS/SOLAECE expert consensus statement on catheter and surgical ablation of atrial fibrillation: executive summary.

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2017 HRS/EHRA/ECAS/APHRS/SOLAECE expert consensus statement on catheter and surgical ablation of atrial fibrillation: executive summary.

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Association of adenovirus 36 infection with obesity-related gene variants in adolescents

Both, common gene variants and human adenovirus 36 (Adv36) are involved in the pathogenesis of obesity. The potential relationship between these two pathogenic factors has not yet been investigated. The aim of our study was to examine the association of obesity susceptibility loci with Adv36 status. Genotyping of ten gene variants (in/near TMEM18, SH2B1, KCTD15, PCSK1, BDNF, SEC16B, MC4R, FTO) and analysis of Adv36 antibodies was performed in 1,027 Czech adolescents aged 13.0-17.9 years. Variants of two genes (PCSK1 and BDNF) were associated with Adv36 seropositivity. A higher prevalence of Adv36 antibody positivity was observed in obesity risk allele carriers of PCSK1 rs6232, rs6235 and BDNF rs4923461 vs. non-carriers (chi(2)=6.59, p=0.010; chi(2)=7.56, p=0.023 and chi(2)=6.84, p=0.033, respectively). The increased risk of Adv36 positivity was also found in PCSK1 variants: rs6232 (OR=1.67, 95 % CI 1.11-2.49, p=0.016) and rs6235 (OR=1.34, 95 % CI 1.08-1.67, p=0.010). PCSK1 rs6232 and BDNF rs925946 variants were closely associated with Adv36 status in boys and girls, respectively (chi(2)=5.09, p=0.024; chi(2)=7.29, p=0.026). Furthermore, PCSK1 rs6235 risk allele was related to Adv36 seropositivity (chi(2)=6.85, p=0.033) in overweight/obese subgroup. In conclusion, our results suggest that obesity risk variants of PCSK1 and BDNF genes may be related to Adv36 infection.</p

Family and Population-Based Studies of Variation within the Ghrelin Receptor Locus in Relation to Measures of Obesity

The growth hormone secretagogue receptor (GHSR) is mediating hunger sensation when stimulated by its natural ligand ghrelin. In the present study, we tested the hypothesis that common and rare variation in the GHSR locus are related to increased prevalence of obesity and overweight among Whites.In a population-based study sample of 15,854 unrelated, middle-aged Danes, seven variants were genotyped to capture common variation in an 11 kbp region including GHSR. These were investigated for their individual and haplotypic association with obesity. None of these analyses revealed consistent association with measures of obesity. A -151C/T promoter mutation in the GHSR was found in two unrelated obese patients. One family presented with complete co-segregation, but the other with incomplete co-segregation. The mutation resulted in an increased transcriptional activity (p<0.02) and introduction of a specific binding for Sp-1-like nuclear extracts relative to the wild type. The -151C/T mutation was genotyped in the 15,854 Danes with a minor allele frequency of 0.01%. No association with obesity in carriers (mean BMI: 27+/-4 kg/m(2)) versus non-carriers (mean BMI: 28+/-5 kg/m(2)) (p>0.05) could be shown.In a population-based study sample of 15,854 Danes no association between GHSR genotypes and measures of obesity and overweight was found. Also, analyses of GHSR haplotypes lack consistent associations with obesity related traits. A rare functional GHSR promoter mutation variant was identified, yet there was no consistent relationship with obesity in neither family- nor population-based studies