Differentiating Genetic Forms of Pontocerebellar Hypoplasia From Acquired Lesions Resembling Pontocerebellar Hypoplasia: Clinical, Neurodevelopmental, and Imaging Insight From 19 Extremely Premature Patients.

It is well established that extreme prematurity can be associated with cerebellar lesions potentially affecting the neurologic prognosis. One of the commonly observed lesions in these cases is pontocerebellar hypoplasia resulting from prematurity, which can pose challenges in distinguishing it from genetically caused pontocerebellar hypoplasia. This confusion leads to unacceptable and prolonged diagnostic ambiguity for families as well as difficulties in genetic counseling. Therefore, it is crucial to identify the clinical and neuroradiologic features allowing to differentiate between acquired and genetic forms of pontocerebellar hypoplasia in order to guide clinical practices and improve patient care. In this regard, we report in the present manuscript the clinical, developmental, and radiologic characteristics of 19 very premature children (gestational age <28 weeks, now aged 3-14 years) with cerebellar lesions and discuss the causal mechanisms. Our findings support the notion that a combination of specific clinical and radiologic criteria is essential in distinguishing between acquired and genetic forms of pontocerebellar hypoplasia.

Pediatric spinal pilocytic astrocytomas form a distinct epigenetic subclass from pilocytic astrocytomas of other locations and diffuse leptomeningeal glioneuronal tumours.

Pediatric spinal low-grade glioma (LGG) and glioneuronal tumours are rare, accounting for less 2.8-5.2% of pediatric LGG. New tumour types frequently found in spinal location such as diffuse leptomeningeal glioneuronal tumours (DLGNT) have been added to the World Health Organization (WHO) classification of tumours of the central nervous system since 2016, but their distinction from others gliomas and particularly from pilocytic astrocytoma (PA) are poorly defined. Most large studies on this subject were published before the era of the molecular diagnosis and did not address the differential diagnosis between PAs and DLGNTs in this peculiar location. Our study retrospectively examined a cohort of 28 children with LGGs and glioneuronal intramedullary tumours using detailed radiological, clinico-pathological and molecular analysis. 25% of spinal PAs were reclassified as DLGNTs. PA and DLGNT are nearly indistinguishable in histopathology or neuroradiology. 83% of spinal DLGNTs presented first without leptomeningeal contrast enhancement. Unsupervised t-distributed stochastic neighbor embedding (t-SNE) analysis of DNA methylation profiles showed that spinal PAs formed a unique methylation cluster distinct from reference midline and posterior fossa PAs, whereas spinal DLGNTs clustered with reference DLGNT cohort. FGFR1 alterations were found in 36% of spinal tumours and were restricted to PAs. Spinal PAs affected significantly younger patients (median age 2 years old) than DLGNTs (median age 8.2 years old). Progression-free survival was similar among the two groups. In this location, histopathology and radiology are of limited interest, but molecular data (methyloma, 1p and FGFR1 status) represent important tools differentiating these two mitogen-activated protein kinase (MAPK) altered tumour types, PA and DLGNT. Thus, these molecular alterations should systematically be explored in this type of tumour in a spinal location.

Natural history of Myhre syndrome.

BACKGROUND: Myhre syndrome (MS) is a rare genetic disease characterized by skeletal disorders, facial features and joint limitation, caused by a gain of function mutation in SMAD4 gene. The natural history of MS remains incompletely understood. METHODS: We recruited in a longitudinal retrospective study patients with molecular confirmed MS from the French reference center for rare skeletal dysplasia. We described natural history by chaining data from medical reports, clinical data warehouse, medical imaging and photographies. RESULTS: We included 12 patients. The median age was 22 years old (y/o). Intrauterine and postnatal growth retardation were consistently reported. In preschool age, neurodevelopment disorders were reported in 80% of children. Specifics facial and skeletal features, thickened skin and joint limitation occured mainly in school age children. The adolescence was marked by the occurrence of pulmonary arterial hypertension (PAH) and vascular stenosis. We reported for the first time recurrent strokes from the age of 26 y/o, caused by a moyamoya syndrome in one patient. Two patients died at late adolescence and in their 20 s respectively from PAH crises and mesenteric ischemia. CONCLUSION: Myhre syndrome is a progressive disease with severe multisystemic impairement and life-threathning complication requiring multidisciplinary monitoring.

Self extrusion on an ingested foreign body: a case report.

Foreign body ingestion is a frequent issue in paediatrician's practice. Foreign bodies often pass the gastro-intestinal tract spontaneously but can sometimes generate complications (1% of the cases). The migration of ingested foreign bodies is rare, but their spontaneous extrusion through the skin is even rarer and was previously described only in the neck. We report an unusual case of a spontaneous extrusion of an ingested foreign body through the skin of the lower abdomen. Observation: A 2 year-old boy, presented with a 2cm inflammatory swelling of the hypogastric region. Laboratory analysis showed hyperleukocytosis (16 7770 /mm3) and high C reactive protein level at 12mg/L. Ultrasonography and computed tomography allowed us to diagnose a parietal foreign body extruding through the skin and to eliminate associated complication (perforation, vascular fistula…). The foreign body was extracted by a surgical incision. This observation is very rare but it is also uncommon because of the nature of the ingested foreign body which was a wooden piece. Its ingestion was explained by a paediatric mental disorder.

Significant reduction of wound infections with daily probing of contaminated wounds: a prospective randomized clinical trial.

HYPOTHESIS: Local wound management using a simple wound-probing protocol (WPP) reduces surgical site infection (SSI) in contaminated wounds, with less postoperative pain, shorter hospital stay, and improved patient satisfaction. DESIGN: Prospective randomized clinical trial. SETTING: Academic medical center. PATIENTS: Adult patients undergoing open appendectomy for perforated appendicitis were enrolled from January 1, 2007, through December 31, 2009. INTERVENTIONS: Study patients were randomized to the control arm (loose wound closure with staples every 2 cm) or the WPP arm (loosely stapled closure with daily probing between staples with a cotton-tipped applicator until the wound is impenetrable). Intravenous antibiotic therapy was initiated preoperatively and continued until resolution of fever and normalization of the white blood cell count. Follow-up was at 2 weeks and at 3 months. OUTCOME MEASURES: Wound pain, SSI, length of hospital stay, other complications, and patient satisfaction. RESULTS: Seventy-six patients were enrolled (38 in the WPP arm and 38 in the control arm), and 49 (64%) completed the 3-month follow-up. The patients in the WPP arm had a significantly lower SSI rate (3% vs 19%; P = .03) and shorter hospital stays (5 vs 7 days; P = .049) with no increase in pain (P = .63). Other complications were similar (P = .63). On regression analysis, only WPP significantly affected SSI rates (P = .02). Age, wound length, body mass index, abdominal circumference, and diabetes mellitus had no effect on SSI. Patient satisfaction at 3 months was similar (P = .69). CONCLUSIONS: Surgical site infection in contaminated wounds can be dramatically reduced by a simple daily WPP. This technique is not painful and can shorten the hospital stay. Its positive effect is independent of age, diabetes, body mass index, abdominal girth, and wound length. We recommend wound probing for management of contaminated abdominal wounds.

Endoscopic ultrasound for early stage esophageal adenocarcinoma: implications for staging and survival.

BACKGROUND: Patients often receive induction therapy based on endoscopic ultrasound (EUS)-identified nodal spread (N1) or deep tumor invasion (T3), although controversy exists regarding the role of induction therapy for early stage disease. We aim to evaluate the reliability of EUS in identifying early stage disease and the subsequent impact on treatment and outcomes. METHODS: We retrospectively studied 149 patients who underwent EUS and esophagectomy for adenocarcinoma between January 2000 and December 2008. Computed tomography (CT) was performed in all patients, whereas positron emission tomography (PET) was performed in 91%. Clinical stage (c), pathologic stage (p), operative mortality, and survival were recorded. RESULTS: Unanticipated pathologic nodal disease was similar in patients with cT1N0 and cT2N0 tumors (6/25 [24%] versus 7/18 [38.8%]; p=0.6). Among the 18 cases of cT2N0 disease, 9 (50%) were pathologically staged as T1N0, 8 (44%) were upstaged to pT3N0-1, and 1 (6%) was pT2N0. One case of cT1N0 tumor (4%) was upstaged to pT3N0. Among patients with cT1-2N0 tumors, 5-year disease-free survival for the group that was appropriately staged was 89.8% versus 39.9% for the group that had a higher pathologic stage than their clinical stage (ie, >T2N0) (p<0.001). Operative mortality for patients with cT1-2N0 tumors was 0/43 (0%), which was no different from that in the higher clinical stage groups with (1/37, 2.7%) or without (2/68, 2.9%) induction therapy (p=0.5). Multivariate analysis identified marked/intense uptake on staging PET (odds ratio, 5.76, 95%; confidence interval, 1.25 to 26.52; p=0.021) to be a factor predictive of upstaging of cT1-2N0 tumors. CONCLUSIONS: Current staging techniques are inadequate for predicting T1-2N0 disease in esophageal adenocarcinoma. Survival is excellent with operation alone in patients with tumors appropriately staged as T1-2N0, although patients with tumors upstaged to greater than T2N0 have significantly worse survival. Other preoperative factors such as PET uptake may help select patients with cT1-2N0 tumors that will be upstaged at resection.

Surgical resection in combination with lung volume reduction surgery for stage I non-small cell lung cancer.

Surgical resection remains the favored option of treatment for stage I lung cancer patients. Co-existing obstructive lung disease can reduce lung function and increase the risk of surgery. Severe emphysema may preclude resection of lung cancer due to concerns about low values of postoperative lung function. However, many patients will experience stable or improved lung function simply by resecting hyper-expanded and relatively functionless lung. This so-called "lung volume reduction effect" may occur after standard resection or after rare instances of formal lung volume reduction surgery concurrent with pulmonary resection of the tumor. This review explores these possibilities and informs the readers of pioneering work in this area.

Prediction of patients with acute cholecystitis requiring emergent cholecystectomy: a simple score.

The objective was to develop a score, to stratify patients with acute cholecystitis into high, intermediate, or low probability of gangrenous cholecystitis. The probability of gangrenous cholecystitis (score) was derived from a logistic regression of a clinical and pathological review of 245 patients undergoing urgent cholecystectomy. Sixty-eight patients had gangrenous inflammation, 132 acute, and 45 no inflammation. The score comprised of: age > 45 years (1 point), heart rate > 90 beats/min (1 point), male (2 points), Leucocytosis > 13,000/mm(3) (1.5 points), and ultrasound gallbladder wall thickness > 4.5 mm (1 point). The prevalence of gangrenous cholecystitis was 13% in the low-probability (0-2 points), 33% in the intermediate-probability (2-4.5 points), and 87% in the high probability category (>4.5 points). A cutoff score of 2 identified 31 (69%) patients with no acute inflammation (PPV 90%). This scoring system can prioritize patients for emergent cholecystectomy based on their expected pathology.

Plasma DNA is more reliable than carcinoembryonic antigen for diagnosis of recurrent esophageal cancer.

BACKGROUND: Carcinoembryonic antigen (CEA) and plasma DNA are known to be elevated in patients with esophageal cancer and are higher in patients with disseminated disease. The sensitivity and specificity of these markers in the diagnosis of recurrent esophageal cancer have not been compared. STUDY DESIGN: Plasma DNA was measured using polymerase chain reaction in 45 patients with esophageal cancer and 44 asymptomatic volunteers. The 95(th) percentile (19 ng /mL) in the volunteers was used to define normal. Thirty-nine patients had localized cancer and underwent resection, and six had disseminated disease at operation. Plasma DNA was measured preoperatively in all patients, with serum CEA measured in 31. Plasma DNA was measured sequentially during followup in 21 patients, including 7 who developed recurrence. CEA was measured in 14 of 21 patients who had sequential plasma DNA measured and in 6 of 7 patients with recurrence. CEA levels greater than 5.0 ng/mL were used as cut-off. RESULTS: Plasma DNA was more sensitive than CEA for detecting unresectable esophageal cancer (100% versus 40%), but it had a lower specificity (22% versus 89%). The positive predictive value (19% versus 40%) and negative predictive value (100% versus 89%) were similar for plasma DNA and serum CEA, respectively. Plasma DNA was also more sensitive than CEA in detecting recurrent esophageal cancer (100% versus 33%). The specificity and positive predictive values were 100% for both tests, but the negative predictive values were higher for plasma DNA. Plasma DNA rose before there was clinical evidence of recurrence in 67% compared with only 17% for CEA. CONCLUSIONS: Elevated plasma DNA is an extremely reliable indicator of the presence of recurrent disease, and, in the majority of patients, it rises before clinical evidence of recurrence. In contrast, a normal CEA should be interpreted cautiously, because it does not exclude recurrent disease.

Psoas abscess rarely requires surgical intervention.

BACKGROUND: Surgeons are increasingly encountering psoas abscesses. METHODS: We performed a review of 41 adults diagnosed and treated for psoas abscess at a county hospital. Treatment modalities and outcomes were evaluated to develop a contemporary algorithm. RESULTS: Eighteen patients had a primary psoas abscess, and 23 had a secondary psoas abscess. Patient characteristics were similar in both groups. Intravenous drug abuse was the leading cause of primary abscesses. Secondary abscesses developed most commonly after abdominal surgery. Treatment was via open drainage (3%), computed tomography-guided percutaneous drainage (63%), or antibiotics alone (34%). Four recurrences occurred in the percutaneous group. Statistical analysis showed that the median size of psoas abscesses in the percutaneous group was significantly larger than in the antibiotics group (6 vs 2 cm; P < .001). The mortality rate was 3%. CONCLUSIONS: Initial management of psoas abscesses should be nonsurgical (90% success). Small abscesses may be treated with antibiotics alone, and surgery can be reserved for occasional complicated recurrences.

Plasma DNA as a molecular marker for completeness of resection and recurrent disease in patients with esophageal cancer.

OBJECTIVE: To identify a marker for completeness of resection and recurrent disease in patients with esophageal cancer. DESIGN: Case series. SETTING: Department of Surgery of the University of Southern California. PATIENTS: Forty-four healthy subjects and 45 patients with esophageal cancer prior to esophagectomy. Six patients were unresectable and 39 had a complete resection. MAIN OUTCOME MEASURES: Plasma DNA levels were measured using polymerase chain reaction. Twenty resected patients had follow-up plasma DNA levels measured. RESULTS: Preoperatively, plasma DNA levels exceeded the normal level in 38 (84%) of 45 patients. Preoperatively, 12 patients received neoadjuvant therapy and 11 had plasma DNA levels higher than normal. All 6 unresectable patients had DNA levels higher than normal. At initial follow-up, the plasma DNA levels remained higher than normal in 2 (10%) of 20 patients, and systemic disease was subsequently detected in each. Plasma DNA levels dropped lower than or remained normal in 18 (90%) of 20. In 14 of 18 patients, there was no evidence of recurrent disease at a median of 12 months (range, 3-20 months); in 4 patients, the plasma DNA level rose higher than normal on follow-up and all developed subsequent systemic disease on computed tomographic or positron emission tomographic scan. Six of the 20 patients developed systemic disease during the follow-up (2 had persistently elevated plasma DNA levels, and 4 developed elevated plasma DNA levels at subsequent follow-ups). In 4 of these 6 patients, elevated plasma DNA levels were detected prior to imaging evidence of disease. CONCLUSIONS: Plasma DNA levels are significantly elevated in patients with esophageal cancer and following complete resection should return to normal. Persistently elevated plasma DNA levels after resection or levels that rise on follow-up indicate residual or recurrent disease.