Partial deletions of the long arm of chromosome 13 associated with holoprosencephaly and the Dandy-Walker malformation

Two patients with partial deletions of the long arm of chromosome 13, del(13)(13q21-q34) and del(13)(13q22-q33), respectively, multiple congenital anomalies including holoprosencephaly (HPE) and the Dandy-Walker malformation (DWM) are described. The occurrence of HPE and the DWM in both of these patients suggests that, in addition to ZIC2, which is important for normal development of the forebrain, there is at least one other dosage-sensitive gene in 13q22-q33 that plays an important role in brain development. The DWM is anatomically and developmentally distinct from HPE. The presence of a DWM in each of these two patients with partial deletions of the long arm of chromosome 13 suggests that haploinsufficiency at a locus in 13q22-q33 may cause this anomaly. These findings suggest that microdeletions in 13q22-q33 may be found in a proportion of patients with an apparently isolated DWM. Therefore, careful high-resolution cytogenetic analysis (550 band level or greater) of 13q22-q33 may be considered in these patients. Furthermore, future molecular studies of this region may reveal candidate gene loci for the DWM.     

Radiologic imaging of the shoulder

Modern technology provides a wide array of diagnostic procedures for displaying the bone part of the shoulder and the surrounding soft tissue by means of classic radiography, ultrasound, computerised tomography and MR.     

An innovative medical school curriculum to enhance exposure to genetics and genomics: Updates and outcomes

PurposeIn 2011, we introduced an innovative parallel curriculum at Baylor College of Medicine, formerly called the Genetics Track Curriculum and now called the Genetics and Genomics Pathway, aimed at providing an opportunity for an enriched educational experience throughout medical school. In this report, we describe our 10-year experience with the program and highlight growth in enrollment as well as academic achievements of graduating students.MethodsWe reviewed the data of students enrolled in this pathway, including retention, satisfaction, student-driven curriculum changes, scholarly outcomes, and career outcomes.ResultsFrom September 2011 to June 2021, 121 students were enrolled in the Genetics and Genomics Pathway program. In total, 64 students (64/121 = 53%) left the program before graduating (the majority, after their first year). Of the 57 remaining students, 29 graduated (29/57, approximately 51%), and 4 of the 29 students (4/29 = 14%) matched into a genetics training program.ConclusionThis novel program serves as a mechanism for garnering increased interest and competence in medical genetics. The longitudinal nature of the program fosters enthusiasm for genetics and provides ample opportunity to develop valuable research skills. Given the ongoing shortage of providers in this field, such programs are vital to increase the size of the workforce and broaden the knowledge of providers in diverse fields.     

Continuous ambulatory enteral feeding in hospitalized adults: prospective experience in 98 patients

The goal of this study, which describes a personal technique of continuous enteral nutrition (CEN) in hospitalized adults on an ambulatory basis, was: to prospectively evaluate, over a 2-year period, its efficacy and tolerance in 98 patients requiring CEN for at least 15 days; to compare its efficacy and tolerance with those of conventional non-ambulatory CEN on a prospectively randomized basis in 16 patients. Ambulatory CEN was given at the rate of 35-45 kcal/kg/d (lipids: 35 p. 100; carbohydrates: 45 p. 100); during day-time, a portable system, including pump, tubes and low-viscosity nutrient solutions, allowed ambulation. Ninety-eight consecutive patients with a minimal level of physical autonomy were treated for intestinal (n = 47), pancreatic (n = 20), esophagogastric (n = 17) diseases, or for malnutrition of other causes for an average of 38 days (15 to 141). The average weight gain (m +/- SD) was 1.2 +/- 5.5 p. 100 of ideal body weight (IBW) and the average nitrogen gain was 0.7 +/- 3.8 g/24 h; weight gain proved significantly lower in patients with inflammatory bowel disease receiving steroids. The clinical tolerance proved excellent, except for 5 cases of transient diarrhea and 9 cases of reposition of the nasogastric tube. A decrease in cholesterolemia below 3.9 mmol/l was noted in 25 p. 100 of patients during CEN. No significant difference between ambulatory and non-ambulatory CEN was observed in terms of evolution of body weight and other anthropometric variables, nitrogen balance, albuminemia, and oxygen consumption; conversely, the CEN experience, evaluated by patients on analogical visual scales, was significantly better endured in the ambulatory group.(ABSTRACT TRUNCATED AT 250 WORDS)     

Venous spread of renal cell carcinoma: MDCT

BACKGROUND: The purpose of our study was to present multidetector computed tomography (MDCT) findings in venous spread of renal cell carcinoma (RCC), to determine the superior extent of tumor thrombus and to compare MDCT findings with surgical report. METHODS: The prospective MDCT study was performed on 31 patients diagnosed with RCC with venous spread (19 males and 12 females; age range 39-80 years; mean age 62.6 years). CT scans were obtained by MDCT scanner, in triphasic scanning protocol. All postprocessing techniques were performed by two independent radiologists, and the findings were reported in their consensus. MDCT diagnosis was compared with surgical and pathohistological findings. RESULTS: Tumor thrombus extension into renal vein only (T3b stage) was found in 13/31 (42%) patients. Involvement of infradiaphragmatic level of inferior vena cava (IVC) (T3c stage) was found in 14/31 (45%) patients and supradiaphragmatic level of IVC (T4b stage) in 4/31 (13%) patients. In 27/31 (87%) patients surgery was performed, while 4/31 (13%) could not undergo surgery. In comparison with surgical report, in 25/27 (93%) operated patients the upper extent of the tumor thrombus was correctly diagnosed by MDCT, and 2/27 (7%) patients were falsely diagnosed. CONCLUSION: MDCT represents a fast, relatively inexpensive, and reliable diagnostic method for evaluating the venous spread of RCC as well as the level of its upper extent. Triphasic MDCT is often the only diagnostic method necessary for planning the surgical procedure. Surgery should be performed as soon as possible for MDCT findings to be valid.