Optimizing evaluation in pediatric and young adult patients with Marfan syndrome: Novel longitudinal metrics to track growth of aortic structures.

OBJECTIVE: Surveillance metrics in pediatric and young adult Marfan syndrome (pMFS) are challenging. We evaluated the utility of aortic root cross-sectional area/height index (CSA/Ht) on echocardiogram among pMFS patients as a risk stratification and surgical triage metric. METHODS: Genotype or phenotype positive pMFS patients aged 25 years or younger seen at our center from 2001 to 2020 were identified. Time-related transition to surgery was modeled using parametric methods. Predictive utility of CSA/Ht compared with aortic root diameter (ARd) and root Z score (ARz) were modeled using nonlinear multivariable parametric and nonparametric longitudinal regression models. RESULTS: Seventy-nine patients (43% female) presented at median age of 5.8 years (15th-85th percentile, 0.75-17 years) with median follow-up of 4.4 years (range, 0-18.5 years). Baseline echocardiography data were: CSA/Ht, 3.9 ± 1.4 cm2/m; ARd, 2.4 ± 0.89 cm; and ARz, 2.4 ± 1.7. CSA/Ht tracked ARd better compared with ARz (r = 0.91 vs 0.24). Eighteen patients underwent surgery. Surgical procedures included at least 2 components in 17 (aortic, mitral, tricuspid, aortic root, and arch procedures) and isolated mitral valve procedures in 1 patient. Time-related transition to surgery showed a prominent early phase to 1 year post presentation, followed by a slowly increasing late phase. CSA/Ht had a more linear correlation versus ARz during periods of rapid somatic growth in surgical patients. Surgical repair occurred at CSA/Ht between 5 and 7 cm2/m. CONCLUSIONS: CSA/Ht tracked ARd well over time. CSA/Ht between 5 and 7 cm2/m might be a promising metric for surgical triage in pMFS patients. CSA/Ht surgical threshold values in pMFS patients occurred at lower than current accepted "surgical" threshold values for CSA/Ht in adult Marfan syndrome patients.

Unusual coronary artery arrangement in D-transposition of the great arteries with ventricular septal defect.

A term female with prenatally diagnosed D-Transposition of the great arteries, large membranous ventricular septal defect with inlet extension, moderate secundum atrial septal defect, and large patent ductus arteriosus (Fig 1) was born by scheduled caesarean section. Transthoracic echocardiogram confirmed the anatomy with both coronary arteries arising from a single sinus with separate ostia. The right coronary artery arose from right posterior facing sinus (Fig 2). The left coronary artery arose anomalously from the same sinus adjacent to the right coronary artery ostium, coursing posterior to the aorta, with brief intramural and interarterial course before bifurcating into the left anterior descending and left circumflex coronary arteries (Figs 3 and 4). As a result of this unique coronary pattern, she underwent unroofing of the intramural left coronary artery noted on opening the aortic root to the coronary ostium. Both coronary buttons were harvested and this large button was then divided into two buttons. The left coronary artery button was implanted with a trapdoor technique, right coronary artery button was implanted, and the remainder of the arterial switch procedure along with LeCompte maneuver was completed uneventfully, with closure of the atrial and ventricular septal defects. The post-operative course was uneventful and the patient was discharged on the seventh post-operative day. At discharge, the patient had normal biventricular systolic function, no residual intracardiac shunt, and robust antegrade flow in the reimplanted coronary arteries. The patient was growing well at the fourth month post-operative visit with normal biventricular function, patent coronaries, and outflow tracts.

Streamlining Pediatric Emergency Medicine at a Tertiary-care Hospital of a Low- to Middle-income Country.

The factors of integral importance to run any pediatric emergency department efficiently are the ability to process a high volume of patients quickly and a sensitive triage system that identifies the sickest children. Achieving these aims in a low- to middle-income country setting is more complex as a result of scarce resources and data on which to base systems. In this article, we discuss existing models of streamlining pediatric emergency department services that are most applicable to resource-limited countries, and present suggestions for streamlining pediatric emergency care in such countries.

Benign granulomatous polyp obstructing the bronchus.

Inflammatory endobronchial polyps are rarely encountered. We report a case of a 14 years old girl with a benign granulomatous polyp originating in the bronchus. Computed tomography scan showed an intraluminal soft tissue opacity while fiberoptic bronchoscopy revealed a large soft tissue mass completely occluding the left lower lobe. Rigid bronchoscopy under general anaesthesia identified a fleshy mass in the left main stem bronchus which was excised via bronchoscopy. The histopathology showed benign polyp with non-specific inflammation. The patient's symptoms improved subsequently and no recurrence was reported till two years of follow-up.

The clinical, endoscopic and histological spectrum of the solitary rectal ulcer syndrome: a single-center experience of 116 cases.

BACKGROUND: Solitary rectal ulcer syndrome (SRUS) is an uncommon although benign defecation disorder. The aim of this study was to evaluate the variable endoscopic manifestations of SRUS and its association with other diseases. METHODS: All the patients diagnosed with SRUS histologically from January 1990 to February 2011 at The Aga Khan University, Karachi were included in the study. The medical records were reviewed retrospectively to evaluate the clinical spectrum of the patients along with the endoscopic and histological findings. RESULTS: A total of 116 patients were evaluated. The mean age was 37.4 ± 16.6 (range: 13-80) years, 61 (53%) of the patients were male. Bleeding per rectum was present in 82%, abdominal pain in 49%, constipation in 23% and diarrhea in 22%. Endoscopically, solitary and multiple lesions were present in 79 (68%) and 33 (28%) patients respectively; ulcerative lesions in 90 (78%), polypoidal in 29 (25%), erythematous patches in 3 (2.5%) and petechial spots in one patient. Associated underlying conditions were hemorrhoids in 7 (6%), hyperplastic polyps in 4 (3.5%), adenomatous polyps in 2(2%), history of ulcerative colitis in 3 (2.5%) while adenocarcinoma of colon was observed in two patients. One patient had previous surgery for colonic carcinoma. CONCLUSION: SRUS may manifest on endoscopy as multiple ulcers, polypoidal growth and erythematous patches and has shown to share clinicopathological features with rectal prolapse, proctitis cystica profunda (PCP) and inflammatory cloacogenic polyp; therefore collectively grouped as mucosal prolapse syndrome. This may be associated with underlying conditions such as polyps, ulcerative colitis, hemorrhoids and malignancy. High index of suspicion is required to diagnose potentially serious disease by repeated endoscopies with biopsies to look for potentially serious underlying conditions associated with SRUS.

A US-based survey on ventriculostomy practices.

BACKGROUND: The incidence of ICP monitoring has increased over the years and the indications for placement have expanded. Although ventriculostomy and ICP monitor placement are among the most commonly performed neurosurgical procedures, the current practice patterns have rarely been studied. METHODS: A 10-question survey was sent to 2006 neurosurgeons and 1060 neurosurgery residents in the US. Demographic information and data regarding estimated success rates of ventriculostomies, the steps taken in failure and use of technological aids used was sought. RESULTS: 479 neurosurgeons and 108 residents responded to our survey (response rates 23.9% and 10.2%, respectively). No catheter misplacements were reported by 19.8% respondents in the previous year whereas 2.2% reported misplacing more than 30%. With regards to ventriculostomy for patients with slit ventricles, image guidance was used by 51.7%; freehand technique was preferred by 41.6% and the Ghajar guide was used by 6.7% of respondents. We found that 56.9% of respondents abandoned free-hand placement after 3 failed passes. After abandoning free-hand cannulation, respondents used an ICP bolt or similar intra-parenchymal pressure monitoring device in trauma patients. Other approaches included leaving the catheter in place and readjusting it after repeating a CT scan. CONCLUSIONS: This survey sheds light on the current practice of ventriculostomy placement. Both residents and neurosurgeons admit to multiple attempts and frequent catheter misplacement. In order to consider a change in practice, respondents cited an increase in available data about guidance systems and ability to accommodate abnormal ventricular anatomy as primary requirements. A prospective study could help establish true evidence based practice for this common neurosurgical procedure.

Imaging and intervention for coronary artery disease following irradiation of malignant thymoma.

Thymomas are rare malignant epithelial growths, constituting 20% of mediastinal tumours. Resection followed by irradiation may be employed in all thymomas except for stage 1 thymomas. Mediastinal irradiation is associated with coronary artery disease. The mean duration of presentation of post-irradiation coronary artery disease is 16 years (range 3-29 years). In our patient coronary artery disease was found only a year post irradiation. A 55 year old male who presented with complaints of dyspnoea, retrosternal chest pain and heaviness since one year underwent resection for malignant thymoma followed by radiotherapy. He presented with coronary artery disease a year after undergoing mediastinal irradiation. On follow-up, patient was treated successfully by coronary artery bypass graft. This case is an unusual occurrence and suggests that mediastinal irradiation may result in significant coronary artery disease as early as within one year.