Goldenhar syndrome is a multifactorial congenital anomaly that involves structures that develop from the first and second pharyngeal arches. In this report, we present a clinical case of a 3-month-old male infant diagnosed with Goldenhar syndrome, born to a known retro-viral infected mother who was receiving antiretroviral therapy. The baby was brought to the hospital with complaints related to upper respiratory system. On examination, he had typical signs and symptoms of Goldenhar syndrome: an asymmetrical face with small left facial bones, a low-set ear, left anophthalmia, an atretic left ear with only small ear appendages, and a complete cleft lip and palate. His family had no history of birth defects or exposure to the known causes of birth defects. The baby was treated for severe community-acquired pneumonia, the diagnosis for his current presentation to our hospital, and he is now on multidisciplinary follow-up for possible medical and surgical management of the Goldenhar syndrome.

Pituitary stalk interruption syndrome is a rare, congenital abnormality. Early identification and treatment can improve patient prognosis and quality of life and prevent adverse effect on growth and development. The patient described is an 8-year-old child with a history of short stature.

Congenital pouch colon (CPC) is a rare congenital abnormality, in which a pouch-like dilatation partially or completely replaces the colon, creating a fistula with the urogenital. Congenital colonic pouch is an extremely rare congenital disease mainly reported in India, and to date there are no reported cases in Lebanon. In this paper, we present a case of full-term male neonate diagnosed with a congenital colon pouch in Lebanon. A full-term neonate presented with imperforate anus, abdominal distention, and vomiting. Diagnostic assessments revealed a well-encapsulated mass compressing the intestines and ureter. Surgical intervention identified a type I CPC with a meconium-filled pouch directly connected to the small intestine, and an absent ileocecal valve, prompting an ileostomy. Following the surgery, no postoperative complications were noted. Early imaging can help address the diagnosis to start the appropriate management, plan for surgery to prevent the development of a megacolon and therefore, perforation. The objective is to be aware and consider congenital colonic pouch diagnosis after encountering newborns with such clinical presentation in order to direct clinical investigations toward the diagnosis and treatment of the case early, thus reducing the risk of complications and improving the patient\'s quality of life.

This report describes the case of a 32-year-old patient admitted to the emergency room for polytrauma following a suicide attempt. During the clinical and radiographic examination of the right elbow, Patella cubiti (PC) was fortuitously discovered. This rare anatomical anomaly raises questions about its origin and its impact on the patient\'s clinical presentation. Despite the generally asymptomatic nature of PC, its association with severe polytrauma in this case underlines the importance of comprehensive radiographic evaluation when managing traumatic injuries. This clinical case contributes to our understanding of this rare anatomical variation and underscores the need for further research on its clinical implications as well as therapeutic management.

UNASSIGNED: Urethroplasty is the preferred treatment for hypospadias but is affected by the severity of anomalies, making it a complex procedure with potential postoperative complications. Following surgery, parents receive instructions and recommendations, whether from nurses or physicians, regardless of complication rates. However, nurses play a crucial role in educating caregivers before surgery and providing postoperative care during follow-up. The study aims to assess parents\' knowledge and practices, as well as the frequency of complications in boys who underwent urethroplasty for hypospadias and received postoperative nurse-led care and whose parents received preoperative education against those of boys who underwent urethroplasty under routine hospital care.
UNASSIGNED: In this retrospective study, Han Chinese boys aged 21-41 months in Western China who underwent urethroplasty for hypospadias were divided into two groups: the NI cohort (n = 103), where they received postoperative nurse-led care and their parents received preoperative education, and the RH cohort (n = 142), where boys underwent routine hospital care.
UNASSIGNED: After urethroplasty, higher numbers of caregivers with satisfactory knowledge (96 (93%) vs. 80 (56%), p < 0.0001) and practice (102 (99%) vs. 132 (93%), p = 0.0276) were reported in the NI cohort compared to the RH cohort. Additionally, a higher number of boys in the RH cohort experienced adverse effects such as moderate bleeding (13 (9%) vs. 1 (1%), p = 0.0052), wound infection (17 (12%) vs. 4 (4%), p = 0.0356), urinary obstruction (35 (25%) vs. 10 (10%), p = 0.0049), burning sensation (47 (33%) vs. 15 (15%), p = 0.0019), and urinary stent fall (32 (23%) vs. 6 (6%), p = 0.0008) compared to those in the NI cohort.
UNASSIGNED: Preoperative instructions enhance caregivers\' knowledge and practices following urethroplasty, while postoperative nurse-led care reduces immediate postoperative complications associated with hypospadias in boys.

A 47-year-old man with a history of transposition of the great arteries after a Mustard atrial switch procedure and prior inferior vena cava filter placement for venous thromboembolism presented for removal before being listed for orthotopic heart transplantation in anticipation of cardiopulmonary bypass cannulation. The filter was retrieved using a right transjugular approach without disruption of his existing atrial baffle. Contingency planning in the event of unsuccessful baffle navigation included a transfemoral everted filter approach. A thorough understanding of unique patient anatomy and multidisciplinary team approach is critical to safe procedural intervention in patients with congenital cardiovascular anomalies.

UNASSIGNED: Guanidinoacetate methyltransferase deficiency (GAMT) is an autosomal recessive inborn error of metabolism. A condition that results from a pathogenic variant in the GAMT gene that maps to 19p13.3. The prevalence can be estimated to be up to 1:2,640,000 cases; countries such as Saudi Arabia could have a higher prevalence due to high consanguinity rates. The clinical manifestations that a patient could obtain are broad and start to manifest in the patients\' early childhood years.
UNASSIGNED: A thorough review of case reports in January 2022 was conducted. The retrieved literature was screened for demographic data. Patients of all ages were included. Qualitative variables were described as number and percentage (%), and quantitative data were described by the mean and standard deviation. In bivariate data, Chi-square test (χ2) was used and t-test for nonparametric variables.
UNASSIGNED: Gender distribution was 53% of males and 47% females. Reported age ranged from 8 to 31 months. At the age of onset, 50% of the cases were infants, 28% were toddlers, and 15% were children, concluding that 79% of the reported cases developed symptoms before 5 years old. 68% of the cases developed generalized seizures throughout their life. 84% of the cases expressed a form of developmental delay. 43% of the cases had intellectual disabilities and mental retardation that affected their learning process; most cases required special care. 23% of the affected cases were of consanguineous marriages, and 7% had affected relatives.
UNASSIGNED: We described four novel case reports, the first to be reported in Saudi Arabia. Seizure was a leading finding in the majority of the cases. Developmental delay was broadly observed. Intellectual delay and language impairments are primary hallmarks. Further understanding and early diagnosis are recommended. Premarital testing of neurogenetic diseases using whole-exome sequencing is probably a future direction, especially in populations with high consanguinity rates.

OBJECTIVE: To describe the frequency and types of congenital anomalies and associated risk factors in Brazilian women with type 2 diabetes.
METHODS: In this retrospective cohort study between 2005 and 2021, we included all pregnant participants with type 2 diabetes from the two major public hospitals in southern Brazil. We collected data from the electronic hospital records. Congenital anomalies were classified by the 10th revised International Classification of Diseases, Q chapter, enhanced by the EUROCAT registry classification, and categorized by type and gravity. We used multiple Poisson regression with robust estimates to estimate risks.
RESULTS: Among 648 participants, we excluded 19, and 62 were lost to follow-up; therefore, we included 567 participants. Overt diabetes arose in 191 participants (33.7%, 95% CI 30.0% - 38.0%). Less than 20% of the participants supplemented folate. Congenital anomalies occurred in 78 neonates (13.8%, CI 11.0 - 16.9%), 73 babies (93.6%) presented major anomalies, and 20 (10.5%) cases occurred in participants with overt diabetes. Cardiac anomalies were the most frequent (43 isolated and 12 combined). Pre-eclampsia was associated with an increased risk in the analyses including all women (adjusted RR 1.87 (95% CI 1.23-2.85), p = 0.003), but not in analyses including only women with an HbA1c measured up to the 14th gestational age. HbA1c, either measured at any time in pregnancy (adjusted RR 1.21 (95% CI 1.10-1.33), p < 0.001) or up to the first 14 weeks (adjusted RR 1.22, 95% CI 1.10-1.35, p < 0.001) was the only sustained risk factor. Risk factors such as maternal age, obesity, diabetes diagnosis, or use of antidiabetic medications were not associated with congenital anomalies.
CONCLUSIONS: We found a high frequency of congenital anomalies associated with poor maternal glycemic control and revealed an almost universal lack of preconception care. An urgent call to action is mandatory for the reversal of this gray scenario.

Anomalous origin of the left coronary artery from the pulmonary artery (ALCAPA) is a rare congenital malformation. We present a case of an elderly patient with ALCAPA presenting with complete heart block and non-ST-elevation myocardial infarction years after diagnosis and surgical correction. An 81-year-old female with a history of ALCAPA presented to the emergency department with chest pain and progressive mental deterioration. She was bradycardic and hypotensive. An electrocardiogram revealed a complete heart block. Troponin was 4.04 ng/mL. She received atropine and underwent transcutaneous pacing. Left heart catheterization revealed complete occlusion of the mid-left circumflex artery, which was intervened with balloon angioplasty and chronic total occlusion of the right coronary artery. She was supported with temporary transvenous pacing, did not require further pacing support, and was discharged home. Previous records unearthed that in 1988 she had presented with syncope and was diagnosed with ALCAPA, filling from right-to-left collaterals with large and ectatic coronaries. At the time, she underwent surgical correction with excision of the left coronary from the pulmonary artery and reimplantation in the left coronary cusp along the posterior aorta. She had remained asymptomatic after her surgery until this presentation. ALCAPA is extremely rare in adults. Insufficient collaterals to the left ventricle cause inadequate blood supply, leading to ischemia in adults, predisposing them to arrhythmias and risk of sudden death. Adults with ALCAPA remain at increased risk of adverse cardiac events later in life, requiring long-term monitoring.

There are no published reports describing the anatomic variations of the phrenicoabdominal (PhAbd) veins in cats. The aim of this study was to evaluate the anatomic variations of the PhAbd veins in cats without adrenal disease. This is an anatomic study. Abdominal CT images of cats acquired from January 2021 to February 2023 were retrospectively reviewed. Inclusion criteria were the presence of pre- and postcontrast CT images of the abdomen and the absence of any abdominal diseases that compromise the left and right PhAbd veins visualization. A total of 128 cats were included. Three different vascular anatomic variations were found in the distal pericaval segment of the left phrenicoabdominal (LPhAbd) vein. In the first type, found in 65 cases (50.8%), the LPhAbd vein drained directly into the caudal vena cava. In the second type defined IIa, found in 25 cases (19.5%), the LPhAbd vein drained into the distal third of the left renal vein, less than 5 mm from its opening into the caudal vena cava. In the third type defined IIb, found in 38 cases (29.7%), the LPhAbd vein drained into the distal third of the left renal vein, more than 5 mm from its opening into the caudal vena cava. The right phrenicoabdominal vein had a consistent path and drained into the caudal vena cava in all cases. The knowledge of these vascular variations is expected to help the surgeon during adrenalectomy due to masses with vascular invasion in cats.